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[A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2008

Lin Ying, Rao Shao-qin, Yang Yang

Abstract excerpt

OBJECTIVE: To identify the genetic defect in a four-generation pedigree with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) from Southwest China. METHODS: Linkage analysis with one panel of fluorescently labeled microsatellite markers on chromosome X and mutation screening of SEDL gene by direct sequencing were performed. RESULTS: Linkage between SEDT and Xp22.2-Xp23.1 was established with maximum...

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PMID: 18393234

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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