一种智力发育迟缓、身材矮小、溶血性贫血、青春期延迟及面部外观异常的综合征：与醛缩酶A缺乏症报告的相似之处。
A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency.
作者信息
Hurst J A, Baraitser M, Winter R M
机构信息
Department of Clinical Genetics, Hospital for Sick Children, London, United Kingdom.
出版信息
Am J Med Genet. 1987 Dec;28(4):965-70. doi: 10.1002/ajmg.1320280423.
PMID:3688035
Abstract
We describe a brother and sister with mental retardation, short stature, delayed puberty, spherocytic anemia, and an abnormal facial appearance. The similarities to a child with aldolase A deficiency are discussed.
摘要
我们描述了一对患有智力障碍、身材矮小、青春期延迟、球形红细胞贫血以及面部外观异常的兄妹。文中讨论了他们与一名患有醛缩酶A缺乏症儿童的相似之处。
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