一名具有莫尔综合征和马耶夫斯基综合征特征的女婴：可变表达、基因复合还是一种独特的病症？
A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?
作者信息
Baraitser M, Burn J, Fixsen J
出版信息
J Med Genet. 1983 Feb;20(1):65-7. doi: 10.1136/jmg.20.1.65.
Abstract
A female child, the offspring of a consanguineous mating, had a cleft palate, tongue tumours, hypoplastic tibiae, and polysyndactyly. The relationship to the Mohr and Majewski syndromes is discussed.
摘要
一名女性儿童，系近亲婚配的后代，患有腭裂、舌部肿瘤、胫骨发育不全和多指（趾）畸形。文中讨论了其与莫尔综合征和马耶夫斯基综合征的关系。
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