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Peculiar face, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation; a new autosomal recessive syndrome?

作者信息

Ieshima A, Koeda T, Inagaki M

出版信息

Clin Genet. 1986 Aug;30(2):136-41. doi: 10.1111/j.1399-0004.1986.tb00583.x.

DOI:10.1111/j.1399-0004.1986.tb00583.x
PMID:3757305
Abstract

Two siblings with peculiar facies, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation were reported. The similarity of both the dysmorphic features and the clinical course suggests a new syndrome, which inheritance is considered to be autosomal recessive.

摘要

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