无脑畸形的遗传异质性。
Genetic heterogeneity of cebocephaly.
作者信息
Holmes L B, Driscoll S, Atkins L
出版信息
J Med Genet. 1974 Mar;11(1):35-40. doi: 10.1136/jmg.11.1.35.
Abstract
Three infants with cebocephaly with entirely different aetiologies are described: one possibly representing the effect of a single mutant gene, one with apparent E trisomy, and one with D trisomy. In comparison with other reported patients, it is likely that infants with cebocephaly and no associated chromosomal abnormality have few, if any, extracranial malformations.
摘要
本文描述了三名病因完全不同的头部单孔畸形婴儿
一名可能代表单个突变基因的影响，一名患有明显的E三体综合征，另一名患有D三体综合征。与其他已报道的患者相比，头部单孔畸形且无相关染色体异常的婴儿即使有颅外畸形也很少。
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