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Primary hypergonadotropic hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a second family with additional findings.

作者信息

Mégarbané A, Gannagé-Yared M H, Khalifé A A, Fabre M

机构信息

Medical Genetics Unit, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.

出版信息

Am J Med Genet A. 2003 Jun 1;119A(2):214-7. doi: 10.1002/ajmg.a.20170.

DOI:10.1002/ajmg.a.20170
PMID:12749067
Abstract

Two sisters with primary hypergonadotropic hypogonadism associated with microcephaly, flat occiput, partial alopecia, absent or streak ovaries, and Müllerian hypoplasia are reported. Their parents are first cousins. Despite some clinical differences, their features were very close to a family described with such an association by Al-Awadi et al. [1985: Am J Med Genet 22:619-622] in Kuwait.

摘要

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