Autosomal dominant atretic cephalocele with phenotype variability: Report of a Brazilian family with six affected in four generationsHow to cite this article: Carvalho DR, Giuliani LR, Simão GN, Santos AC, Pina‐Neto JM. 2006. Autosomal dominant atretic cephalocele with phenotype variability: Report of a Brazilian family with six affected in four generations. Am J Med Genet Part A 140A:1458–1462.

Autor: Carvalho, D.R., Giuliani, L.R., Simão, G.N., Santos, A.C., Pina‐Neto, J.M.
Zdroj: American Journal of Medical Genetics. Part A; July 2006, Vol. 140 Issue: 13 p1458-1462, 5p
Abstrakt: 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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