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Article

[Gene diagnosis of X-linked spondyloepiphyseal dysplasia tarda by linkage analysis and DNA sequencing].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Apr 2003

Wang Huai-li, Gao Chao, Luo Qiang, Sheng Guang-yao, Zhou Jian-hua, Gao Tie-zheng, Peng Shao, Lu Jun-ping

Abstract excerpt

OBJECTIVE: X linked spondyloepiphyseal dysplasia tarda (SEDL) is heritable osteochondrondysplasia characterized in affected males by disproportional short stature with short neck and trunk resulting from a growth defect of the vertebral bodies, accompanied by barrel chest and degenerative osteoarthropathy of hip joints. This progressive skeletal dysplasia is caused by the SEDL gene located approximately 100 kb...

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Source

Identifiers

PMID: 14754526

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Gene diagnosis of X-linked spondyloepiphyseal dysplasia tarda by linkage analysis and DNA sequencing].PMID 14754526Read ↗

[Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda].Semantic proximity Read ↗

[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].Semantic proximity Read ↗

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Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.Semantic proximity Read ↗

[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda].Semantic proximity Read ↗

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Molecular Diagnosis and Prenatal Counseling of a Chinese Family with Spondyloepiphyseal Dysplasia congenitalSemantic proximity Read ↗

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.Semantic proximity Read ↗

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A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.Semantic proximity Read ↗

Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.Semantic proximity Read ↗

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