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[Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2015

Yan Yousheng, Yi Bin, Liu Donghai, Zhao Fangping, Zhang Chuan, Chen Xue, Hao Shengju

Abstract excerpt

OBJECTIVE To report on the phenotype of an infant with central hypoventilation syndrome (CCHS) and result of PHOX2B gene mutation analysis for the purpose of genetic counseling and prenatal diagnosis. METHODS Clinical data of an infant with CCHS was collected and analyzed. Potential mutation of PHOX2B gene was analyzed by amplified fragment length polymorphism (amp-FLP) and DNA sequencing. RESULTS The patient had...

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PMID: 26418987
DOI: 10.3760/cma.j.issn.1003-9406.2015.05.012

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