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[Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2020

Zhang Jianwei, Huang Ke, Dong Guanping

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity. METHODS: High-throughput sequencing and Sanger sequencing were used to analyze potential variant of the B3GALT6 gene. RESULTS: DNA sequencing has identified 2 variants of the B3GALT6 gene in the patient, namely c.694C>T and c.539_540insCCT, which were respectively derived from his father and mother....

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Identifiers

PMID: 32761602
DOI: 10.3760/cma.j.issn.1003-9406.2020.08.020

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