Article
Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations.
American journal of medical genetics. Part A - 1 Jul 2006
Carvalho D R, Giuliani L R, Simão G N, Santos A C, Pina-Neto J M
Abstract excerpt
Atretic cephalocele is a clinicopathological entity, which is different from the common form of cephalocele. Its etiopathogenesis has not been completely explained and there are only two previous reports of familial recurrence. We report a Brazilian family with autosomal dominant inheritance with variable expressivity.
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