耳-腭-指综合征（泰比氏综合征）（作者译）
[The oto-palato-digital syndrome (Taybi) (author's transl)].
作者信息
Szabó L, Perjés K, Mangliár K
出版信息
Z Orthop Ihre Grenzgeb. 1977 Feb;115(1):75-82.
PMID:842092
Abstract
Two girls with typical clinical and radiological signs of the oto-palato-digital (OPD) syndrome are described. The grade of severity attained that usually seen only in boys. The patients are thought to be homozygotes for an autosomal recessive gene, not heterozygote carriers.
摘要
本文描述了两名患有耳-腭-指（OPD）综合征典型临床和放射学体征的女孩。其严重程度达到了通常仅在男孩中才会出现的水平。这两名患者被认为是一种常染色体隐性基因的纯合子，而非杂合子携带者。
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