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

✍ Scribed by D.R. Carvalho; L.R. Giuliani; G.N. Simão; A.C. Santos; J.M. Pina-Neto

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 234 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31255

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✦ Synopsis

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. © 2006 Wiley‐Liss, Inc.

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