American Journal of Medical Genetics Part A

Cover image for Vol. 152A Issue 7

July 2010

Volume 152A, Issue 7

Pages C1–C1, fm i–fm x, 1605–1874

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
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  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
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  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
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      Too much? Not enough? (pages fm vii–fm viii)

      Deborah Levenson

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33591

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    3. You have free access to this content
      In this issue (page fm x)

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33593

  4. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. Seize the day: Newborn screening for SMA (pages 1605–1607)

      Kathryn J. Swoboda

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33519

  5. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. Newborn and carrier screening for spinal muscular atrophy (pages 1608–1616)

      Thomas W. Prior, Pamela J. Snyder, Britton D. Rink, Dennis K. Pearl, Robert E. Pyatt, David C. Mihal, Todd Conlan, Betsy Schmalz, Laura Montgomery, Katie Ziegler, Carolee Noonan, Sayaka Hashimoto and Shannon Garner

      Version of Record online: 7 MAY 2010 | DOI: 10.1002/ajmg.a.33474

  6. In Memoriam

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
  7. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
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      Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? (pages 1621–1626)

      Mary C. O'Driscoll, Kim Jenny, Sulagna Saitta, William B. Dobyns and Karen W. Gripp

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33200

  8. Inivited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
  9. Conference Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. You have free access to this content
  10. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey (pages 1641–1653)

      Sarika Rohatgi, Dinah Clark, Antonie D. Kline, Laird G. Jackson, Juan Pie, Victoria Siu, Feliciano J. Ramos, Ian D. Krantz and Matthew A. Deardorff

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33441

    2. Metopic craniosynostosis due to mutations in GLI3: A novel association (pages 1654–1660)

      Donna M. McDonald-McGinn, Holly Feret, Hyun-Duck Nah, Scott P. Bartlett, Linton A. Whitaker and Elaine H. Zackai

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33495

    3. Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome (pages 1661–1669)

      Miles D. Thompson, Marjan M. Nezarati, Gabriele Gillessen-Kaesbach, Peter Meinecke, Roberto Mendoza, Etienne Mornet, Isabelle Brun-Heath, Catherine Prost Squarcioni, Laurence Legeai-Mallet, Arnold Munnich and David E.C. Cole

      Version of Record online: 3 JUN 2010 | DOI: 10.1002/ajmg.a.33438

    4. How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research (pages 1670–1680)

      Emanuele Leoncini, Lorenzo D. Botto, Guido Cocchi, Goran Annerén, Carol Bower, Jane Halliday, Emmanuelle Amar, Marian K. Bakker, Sebastiano Bianca, Maria Aurora Canessa Tapia, Eduardo E. Castilla, Melinda Csáky-Szunyogh, Saeed Dastgiri, Marcia L. Feldkamp, Miriam Gatt, Fumiki Hirahara, Danielle Landau, R. Brian Lowry, Lisa Marengo, Robert McDonnell, Triphti M. Mathew, Margery Morgan, Osvaldo M. Mutchinick, Anna Pierini, Simone Poetzsch, Annukka Ritvanen, Gioacchino Scarano, Csaba Siffel, Antonin Sípek, Elena Szabova, Giovanna Tagliabue, Stein Emil Vollset, Wladimir Wertelecki, Ludmila Zhuchenko and Pierpaolo Mastroiacovo

      Version of Record online: 3 JUN 2010 | DOI: 10.1002/ajmg.a.33493

    5. Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype (pages 1681–1687)

      Oliver Semler, Moira S Cheung, Francis H Glorieux and Frank Rauch

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33448

    6. Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients (pages 1688–1694)

      Lucilene Arilho Ribeiro, Rodrigo Gonçalves Quiezi, Adriana Nascimento, Claudia Pereira Bertolacini and Antonio Richieri-Costa

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33466

    7. Epidemiology of congenital idiopathic talipes equinovarus in Iowa, 1997–2005 (pages 1695–1700)

      Vijaya Kancherla, Paul A. Romitti, Kristin M. Caspers, Soman Puzhankara and Jose A. Morcuende

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33481

    8. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate (pages 1701–1710)

      Ariadne Letra, Renato Menezes, Manika Govil, Renata F. Fonseca, Toby McHenry, José M. Granjeiro, Eduardo E. Castilla, Iêda M. Orioli, Mary L. Marazita and Alexandre R. Vieira

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33482

  11. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients (pages 1711–1717)

      Eleni Katzaki, Gilles Morin, Marzia Pollazzon, Filomena Tiziana Papa, Sabrina Buoni, Joussef Hayek, Joris Andrieux, Laure Lecerf, Cornel Popovici, Aline Receveur, Michèle Mathieu-Dramard, Alessandra Renieri, Francesca Mari and Nicole Philip

      Version of Record online: 27 MAY 2010 | DOI: 10.1002/ajmg.a.33478

    2. Petty syndrome and Fontaine–Farriaux syndrome: Delineation of a single syndrome (pages 1718–1723)

      Stephen R. Braddock, Holly H. Ardinger, Chun-Song Yang, Bryce M. Paschal and Bryan D. Hall

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33468

    3. Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome (pages 1724–1729)

      C. Nur Semerci, Mine Cinbis, Reinhard Ullmann, Anne Steininger, Muhterem Bahce, Baki Yagci, Serap Ozden, Nuran Sabir, Dilihan Gumus, Emre Tepeli, Jazmín Arteaga and Osvaldo M. Mutchinick

      Version of Record online: 27 MAY 2010 | DOI: 10.1002/ajmg.a.33383

    4. Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH (pages 1730–1734)

      N. Bukvic, V. Delli Carri, M. L. Di Cosola, G. Pustorino, C. Cesarano, M. Chetta, R. Santacroce, M. Sarno, F. Sessa, V. Longo, A. Novelli, M. Gentile and M. Margaglione

      Version of Record online: 3 JUN 2010 | DOI: 10.1002/ajmg.a.33437

    5. A de novo duplication of Xp11.22–p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome (pages 1735–1740)

      Simon T. Holden, Amanda Clarkson, N. Simon Thomas, Kristin Abbott, Matthew R. James and Lionel Willatt

      Version of Record online: 3 JUN 2010 | DOI: 10.1002/ajmg.a.33457

    6. Holoprosencephaly and genitourinary anomalies in fetal methotrexate syndrome (pages 1741–1746)

      J. Román Corona-Rivera, Alejandro Rea-Rosas, Adrián Santana-Ramírez, Jorge Acosta-León, Juan Hernández-Rocha and Karla Miguel-Jiménez

      Version of Record online: 7 JUN 2010 | DOI: 10.1002/ajmg.a.33496

    7. Amish microcephaly: Long-term survival and biochemical characterization (pages 1747–1751)

      Victoria Mok Siu, Suzanne Ratko, Asuri N. Prasad, Chitra Prasad and C. Anthony Rupar

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33373

    8. Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel–Lindau mutation Q164R (pages 1752–1755)

      Petra Sovinz, Christian Urban, Sabine Uhrig, Vinzenz Stepan, Herwig Lackner, Wolfgang Schwinger, Martin Benesch, Andrea Moser, Ekkehard Spuller and Michael R. Speicher

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33407

    9. Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies (pages 1756–1763)

      Massimo Carella, Filippo Spreafico, Orazio Palumbo, Clelia Tiziana Storlazzi, Silvia Tabano, Monica Miozzo, Lucia Miglionico, Savino Calvano, Giulia Sindici, Beatrice Gamba, Luciana Impera, Paola Collini, Leopoldo Zelante, Paolo Radice and Daniela Perotti

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33420

    10. A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect (pages 1764–1769)

      Mark S. Bateman, Sarju G. Mehta, Lionel Willatt, Elizabeth Selkirk, Clare Bedwell, Simon Zwolinski, Leeanne Sparnon, Ingrid Simonic, Kristin Abbott and John CK Barber

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33426

    11. Hemifacial myohyperplasia sequence (pages 1770–1773)

      Diego F. Pereira-Perdomo, Juanita Vélez-Forero and Rolando Prada-Madrid

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33428

    12. Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis (pages 1781–1788)

      Anne-Claude Tabet, Azzedine Aboura, Marion Gérard, Marion Pilorge, Céline Dupont, Jean-François Gadisseux, Nadège Hervy, Eva Pipiras, Andrée Delahaye, Samia Kanafani, Alain Verloes, Brigitte Benzacken and Catalina Betancur

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33433

    13. Steinfeld syndrome: Further delineation (pages 1789–1792)

      Cathy A. Stevens

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33440

    14. A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification (pages 1793–1797)

      Yumi Asakura, Satoshi Narumi, Koji Muroya, Kazutoshi Fujita, Noriko Aida, Tomonobu Hasagawa and Masanori Adachi

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33456

    15. Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene (pages 1798–1802)

      Ralf Birkenhäger, Nicola Lüblinghoff, Erick Prera, Christian Schild, Antje Aschendorff and Susan Arndt

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33464

    16. Sirenomelia and VACTERL association in the offspring of a woman with diabetes (pages 1803–1807)

      Marco Castori, Evelina Silvestri, Sandra Cappellacci, Francesco Binni, Giovanna Scassellati Sforzolini and Paola Grammatico

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33460

    17. Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1 (pages 1812–1817)

      Graeme Nimmo, Sarah Monsonego, Maria Descartes, Judith Franklin, Steven Steinberg and Nancy Braverman

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33489

    18. Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated cleft lip and palate (pages 1818–1821)

      Iman Salahshourifar, Ahmad Sukari Halim, Wan Azman Wan Sulaiman and Bin Alwi Zilfalil

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33526

    19. Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism (pages 1822–1824)

      Jessica M. Comstock, Angelica R. Putnam, Nikhil Sangle, Amy Lowichik, Nancy C. Rose and John M. Opitz

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33463

    20. Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region (pages 1825–1831)

      Nicola Brunetti-Pierri, Ralph Lachman, Kwanghyuk Lee, Suzanne M. Leal, Pasquale Piccolo, Ignatia B. Van Den Veyver and Carlos A. Bacino

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33470

    21. Mixed gonadal dysgenesis in a child with isodicentric y chromosome: Does the relative proportion of the 45,X line really matter? (pages 1832–1837)

      Marwan Shinawi, Mark P. Cain, Brian A. VanderBrink, David J. Grignon, Drew Mensing, M. Lance Cooper, Patricia Bader and Sau Wai Cheung

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33475

    22. Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson–McMillin syndrome? (pages 1838–1840)

      Roseli Maria Zechi-Ceide, Maria Leine Guion-Almeida, Fernanda Sarquis Jehee, Katia Rocha and Maria Rita Santos Passos-Bueno

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33477

  12. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV (pages 1841–1843)

      Hanan E. Shamseldin, Zuhair Rahbeeni and Fowzan S. Alkuraya

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33123

    2. Two patients with Rubinstein–Taybi syndrome and severe pulmonary interstitial involvement (pages 1844–1846)

      Rika Kosaki, Shintaro Kikuchi, Goro Koinuma, Masataka Higuchi, Chiharu Torii, Kazuteru Kawasaki and Kenjiro Kosaki

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33382

    3. Rubinstein–Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene (pages 1847–1848)

      B. Isidor, G. Podevin, C. Camby, J.-F. Mosnier, A. Chauty, J.-M. Lyet, P. Fergelot, D. Lacombe, B. Arveiler, A. Pelet, J. Amiel and A. David

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33480

    4. Vici syndrome associated with unilateral lung hypoplasia and myopathy (pages 1849–1853)

      Mohammed Al-Owain, Amal Al-Hashem, Mohammed Al-Muhaizea, Hani Humaidan, Hindi Al-Hindi, Iftetah Al-Homoud and Ibrahim Al-Mogarri

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33421

    5. Ruvalcaba syndrome revisited (pages 1854–1857)

      Masanori Adachi, Koji Muroya, Yumi Asakura, Kenji Kurosawa, Gen Nishimura, Satoshi Narumi and Tomonobu Hasegawa

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33429

    6. Interstitial duplication in the proximal long arm of chromosome 16 (pages 1858–1861)

      Kerstin Hansson, Hans Dauwerse, Antoinet Gijsbers, Mireille van Diepen, Claudia Ruivenkamp and Sarina Kant

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33434

    7. A new familial insertion, ins(18;9)(q12.2;q33.1q31.1) with a 9q31.1–9q33.1 deletion in a girl with a cleft lip and palate (pages 1862–1867)

      Shu-Chin Chien, Yueh-Chun Li, Ling-Hui Li, Jer-Yuarn Wu, Pei-Ching Hsu, Sue-Lin Shi, Fuu-Jen Tsai and Chyi-Chyang Lin

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33452

  13. Book Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. Book review (page 1868)

      F. Clarke Fraser

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33418

    2. Book review (page 1869)

      F. Clarke Fraser

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33419

  14. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. New palpebral fissure measurements (page 1870)

      Judith G. Hall

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33430

  15. Corrigenda

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. In Memoriam
    8. New Syndrome
    9. Inivited Comments
    10. Conference Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. You have free access to this content
      Corrigendum to Obesity Syndrome, MOMES Caused by Deletion–Duplication (4q35.1 del and 5p14.3 Duplication) AJMG Part A, 2009; 149(4): 833–834 (page 1874)

      Mieke M. van Haelst, Rubin Wang, Piranit N. Kantaputra, Rodger Palmer and Philip Beales

      Version of Record online: 25 JUN 2010 | DOI: 10.1002/ajmg.a.33333

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