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Autosomal dominant inheritance of scalp defects with ectrodactyly.

作者信息

Bonafede R P, Beighton P

出版信息

Am J Med Genet. 1979;3(1):35-41. doi: 10.1002/ajmg.1320030109.

DOI:10.1002/ajmg.1320030109
PMID:474617
Abstract

Nine members of four generations of a kindred had an autosomal dominant syndrome in which congenital scalp defects were associated with abnormalities of the hands and feet. Radiographically apparent, circumscribed defects of the skull were an additional inconsistent feature. Genetic counseling is made difficult by varying phenotypic expression of the gene.

摘要

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