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[Microcephalic osteodysplastic primordial dwarfism type Ⅱ in a child].

作者信息

Zhou Y, Xu W, Zhang G

机构信息

Department of Children's Health Prevention, the Affiliated Hospital of Anhui Medical University, Anhui Provincial Children's Hospital, Hefei 230051, China.

Department of Neurology, the First Affiliated Hospital of University of Science and Technology of China, Anhui Provincial Hospital, Hefei 230001, China.

出版信息

Zhonghua Er Ke Za Zhi. 2019 Apr 2;57(4):295-297. doi: 10.3760/cma.j.issn.0578-1310.2019.04.014.

DOI:10.3760/cma.j.issn.0578-1310.2019.04.014
PMID:30934205
Abstract
摘要

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A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.一名中国小头骨-软骨发育不全 II 型原发性侏儒症患者中 PCNT 基因的一种新的纯合突变。
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