Weyers Acrofacial Dysostosis (WAD)

Weyers Acrofacial Dysostosis(来自ICD-11)

别称:

Curry-Hall Syndrome

Weyers Acrodental Dysostosis

Acrofacial Dysostosis, Weyers Type

Acrodental Dysostosis of Weyers

Wad

Acrofacial Dysostosis Weyers Type

Dysostosis, Acrodental, Weyers

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Weyers Acrofacial Dysostosis, also known as curry-hall syndrome, is related to ellis-van creveld syndrome and mckusick-kaufman syndrome. An important gene associated with Weyers Acrofacial Dysostosis is EVC (EvC Ciliary Complex Subunit 1), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include bone and skin, and related phenotypes are abnormality of the dentition and hypoplastic toenails

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