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Title
A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia.
Authors
Vasconcellos, José P C; Melo, Mônica B; Schimiti, Rui B; Bressanim, Norisvaldo C; Costa, Fernando F; Costa, Vital P
Abstract
To describe a Brazilian family with oculodentodigital dysplasia (ODDD) and to screen for mutations in the gap junction protein alpha 1 (GJA1) gene in this family.
Publication
Archives of ophthalmology (Chicago, Ill. : 1960), 2005, Vol 123, Issue 10, p1422