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Article

A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2009

Xia Xin-Yi, Cui Ying-Xia, Zhou Yu-Chun, Zhou Xin, Shi Yi-Chao, Wei Li, Li Xiao-Jun, Huang Yu-Feng, Huang Ting-Ting

Abstract excerpt

BACKGROUND: Spondyloepiphyseal dysplasia tarda (SEDT) is an X-chromosome linked primary skeletal dysplasia characterized by a disproportionate short-trunked short stature, dysplasia of the large joints and flattened thoracic and lumber vertebral bodies. The objective of this study is to describe a large Chinese SEDT family with a milder phenotype and describe the molecular and clinical findings. METHODS: Eight...

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Identifiers

PMID: 19766614
DOI: 10.1016/j.cca.2009.09.016

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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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