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  • Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E. 2008. Deleterious mutations in the zinc-finger 469 gene cause brittle cornea syndrome. Am J Hum Genet 82:12171222.
  • Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup R. 1998. Ehlers–Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet 77:3137.
  • Dündar M, Demiryilmaz F, Demiryilmaz I, Kumandas S, Erkilic K, Kendirch M, Tuncel M, Ozyazgan I, Tolmie JL. 1997. An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins. Clin Genet 51:6164.
  • Dündar M, Kurtoglu S, Elmas B, Demiryilmaz F, Candemir Z, Ozkul Y, Durak AC. 2001. A case with adducted thumb and club foot syndrome. Clin Dysmorphol 10:291293.
  • Dündar M, Müller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR. 2009. Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. Am J Hum Genet 85:873882.
  • Giunta C, Elçioglu NH, Albrecht B, Eich G, Chambaz C, Janecke A, Yeowell H, Weis MA, Eyre DR, Kraenzlin M, Steinmann B. 2008. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome-an autosomal recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet 82:12901305.
  • Janecke AR, Baenziger JU, M üller T, Dündar M. 2011. Letter to the Editors. Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “Dermatan sulfate-deficient adducted thumb-clubfoot syndrome”. Hum Mutat 32:484485.
  • Janecke AR, Unsinn K, Kreczy A, Baldissera I, Gassner I, Neu N, Utermann G, Müller T. 2001. Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family. J Med Genet 38:265269.
  • Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N. 2010. A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. Am J Med Genet Part A 152A:13331346.
  • Kosho T, Takahashi J, Ohashi H, Nishimura G, Kato H, Fukushima Y. 2005. Ehlers–Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. Am J Med Genet Part A 138A:282287.
  • Kresse H, Rosthoj S, Quentin E, Hollmann J, Glossl J, Okada S, Tonnesen T. 1987. Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. Am J Hum Genet 41:436453.
  • Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-L ê, Van Lear L, De Paepe A. Musculocontractural Ehlers–Danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. 2010. Hum Mutat 31:12331239.
  • Mao JR, Bristow J. 2001. The Ehlers–Danlos syndrome: on beyond collagens. J Clin Invest 107:10631069.
  • Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K. Matsumoto N. 2010. Loss-of-function mutations of CHST14 in a new type of Ehles–Danlos syndrome. Hum Mutat 31:966974.
  • Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J. 2001. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med 345:11671175.
  • Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH. 2004. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet 74:917930.
  • Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T. 2011. Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients. Am J Med Genet Part A 155A:19491958.
  • Sonoda T, Kouno K. 2000. Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis? Am J Med Genet 91:280285.
  • Steinmann B, Royce PM, Superti-Furga A. 2002. The Ehlers–Danlos syndrome. In: Royce PM, Steinmann B, editors. Connective tissue and its heritable disorders. New York: Wiley-Liss. p 431523.
  • Voermans, NC, van Alfen N, Pillen S, Lammens M, Schalkwijk J, Zwarts MJ, van Rooij IA, Hamel BCJ, van Engelen BG. 2009. Neuromuscular involvement in various types of Ehlers–Danlos syndrome. Ann Neurol 65:687697.
  • Yasui H, Adachi Y, Minami T, Ishida T, Kato Y, Imai K. 2003. Combination therapy of DDAVP and conjugated estrogens for a recurrent large subcutaneous hematoma in Ehlers–Danlos syndrome. Am J Hematol 72:7172.
  • Zhang L, M üller T, Baenziger JU, Janecke AR. 2010. Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase? 93:289307.