| 概要 |
Van Maldergem syndrome (VMS) is an autosomal-recessive disorder characterized by intellectual disability, hypotonia, distinctive combination of minor facial anomalies, finger camptodactyly, and joint hyperlaxity. Biallelic mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 result in VMS.
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| 著者 |
Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Gotz M, Robertson SP |
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| 著者 |
Neuhann TM, Muller D, Hackmann K, Holzinger S, Schrock E, Di Donato N |
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