少汗型外胚层发育不良、原发性甲状腺功能减退和胼胝体发育不全。
Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum.
作者信息
Fryns J P, Chrzanowska K, Van den Berghe H
机构信息
Centre for Human Genetics, University of Leuven, Belgium.
出版信息
J Med Genet. 1989 Aug;26(8):520-1. doi: 10.1136/jmg.26.8.520.
Abstract
In this report we present the unique combination of hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum in a two year old, severely mentally retarded boy.
摘要
在本报告中，我们呈现了一名两岁、严重智力发育迟缓男孩，其患有少汗型外胚层发育不良、原发性甲状腺功能减退和胼胝体发育不全的独特组合症状。
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