SEARCH

SEARCH BY CITATION

References

  • Allanson JE, Biesecker LG, Carey JC, Hennekam RC. 2009. Elements of morphology: introduction. Am J Med Genet 149A:25.
  • Dundar M, Demiryilmaz F, Demiryilmaz I, Kumandas S, Erkilic K, Kendirci M, Tuncel M, Ozyazgan I, Tolmie JL. 1997. An autosomal recessive adducted thumb–club foot syndrome observed in Turkish cousins. Clin Genet 51:6164.
  • Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. 2007. Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 130:27252735.
  • 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.
  • Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Le T, Van Laer L, De Paepe A. 2010. 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. Hum Mutat 31:12331239.
  • Marfan AB. 1896. Un cas de deformation congenitale des quatre membres, plus prononcee aux extremites, caracterisee par l'allongement des os avec un certain degre d'amincissement. Bull Mem Soc Med Hop Paris 13:220226.
  • McKusick VA. 2007. Mendelian Inheritance in Man and its online version, OMIM. Am J Hum Genet 80:588604.
  • Robinson PHN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S. 2008. The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet 83:610615.
  • Smith CL, Goldsmith CA, Eppig JT. 2005. The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information. Genome Biol 6:R7.
  • Weiss JS, Moller HU, Lisch W, Kinoshita S, Aldave AJ, Belin MW, Kivela T, Busin M, Munier FL, Seitz B, Sutphin J, Bredrup C, Mannis MJ, Rapuano CJ, Van Rij G, Kim EK, Klintworth GK. 2008. The IC3D classification of the corneal dystrophies. Cornea 27(Suppl 2):S1S42.