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Case Reports
. 2006 Jul 1;140(13):1458-62.
doi: 10.1002/ajmg.a.31255.

Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations

D R Carvalho  1 , L R Giuliani, G N Simão, A C Santos, J M Pina-Neto
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Case Reports

Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations

D R Carvalho et al. Am J Med Genet A. .

Abstract

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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