| 概要 |
Atelosteogenesis encompasses a heterogeneous group of skeletal dysplasias with overlapping phenotypic features that include rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations, talipes equinovarus, and early death. Atelosteogenesis type I (AO1) and type III (AO3) are autosomal dominant disorders caused by mutations in the gene encoding filamin B.
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| 著者 |
Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH |
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