Article
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.
Clinical genetics - 1 Dec 2017
Paganini I, Sestini R, Capone G L, Putignano A L, Contini E, Giotti I, Gensini F, Marozza A, Barilaro A, Porfirio B, Papi L
Abstract excerpt
Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies, and mild intellectual disability. Autosomal dominant cases are caused by deletions or point mutations of EYA1. A single family with an autosomal recessive form of OFCS and a homozygous missense mutation in PAX1 gene has been...
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