Waardenburg syndrome type I in a child with deletion (2) (q35q36.2).
作者信息
Kirkpatrick S J, Kent C M, Laxova R, Sekhon G S
出版信息
Am J Med Genet. 1992 Nov 15;44(5):699-700. doi: 10.1002/ajmg.1320440533.
PMID:1481835
Abstract
摘要
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Waardenburg syndrome type I in a child with deletion (2) (q35q36.2).一名患有2号染色体（q35q36.2）缺失的儿童的I型瓦登伯格综合征。
Am J Med Genet. 1992 Nov 15;44(5):699-700. doi: 10.1002/ajmg.1320440533.
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引用本文的文献
1
EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.EPHA4单倍体不足导致一名患有2q35 - q36.2缺失及瓦登伯革氏综合征患者的身材矮小。
BMC Med Genet. 2015 Apr 11;16:23. doi: 10.1186/s12881-015-0165-2.
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