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Article

[Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2018

Chang Guoying, Zhou Yunfang, Yin Lei, Gu Longjun, Ying Daming, Chen Huijin, Wang Xiumin, Wang Jian

Abstract excerpt

OBJECTIVE: To analyze clinical manifestations and genetic mutation in a child with severe short stature and other malformations. METHODS: The child has undergone history taking and physical examination. Genome DNA was extracted from peripheral blood samples of the proband and her family members. Candidate genes were captured with Agilent SureSelect and sequenced on an Illumina platform. Suspected mutation was...

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Identifiers

PMID: 30098249
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.015

Genes

EBP

Variants

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