克鲁宗综合征中的生殖系镶嵌现象。
Germinal mosaicism in Crouzon syndrome.
作者信息
Kreiborg S, Cohen M M
机构信息
Department of Pediatric Denistry, Royal Dental College, Copenhagen, Denmark.
出版信息
Hum Genet. 1990 Apr;84(5):487-8. doi: 10.1007/BF00195827.
PMID:2323783
Abstract
Two sibs with classic Crouzon syndrome of the same mother but different fathers are presented as an example of germinal mosaicism in a known autosomal dominant disorder. The mother and both fathers were completely normal.
摘要
本文报告了一对患有典型克鲁宗综合征的同胞兄妹，他们的母亲相同但父亲不同，以此作为一种已知常染色体显性疾病中生殖腺嵌合现象的实例。母亲及两位父亲均完全正常。
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