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Article

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).

European journal of human genetics : EJHG - 1 Sept 2003

Savarirayan Ravi, Thompson Elizabeth, Gécz Jozef

Abstract excerpt

Spondyloepiphyseal dysplasia tarda (SEDL) is a radiologically distinct, X-chromosome linked primary skeletal dysplasia characterised by disproportionate short-trunked short stature, dysplasia of the large joints (hip) and flattened thoracic and lumber vertebral bodies. Molecular basis for SEDL has been elucidated by the identification of various mutations (currently >30) in the SEDL gene from Xp22 region. The...

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Identifiers

PMID: 12939648
DOI: 10.1038/sj.ejhg.5201025

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).PMID 12939648Read ↗

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

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

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

X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.Semantic proximity Read ↗

Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not.Semantic proximity Read ↗

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

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.Semantic proximity Read ↗

Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda.Semantic proximity Read ↗

A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.Semantic proximity Read ↗

Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.Semantic proximity Read ↗

Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda.Semantic proximity Read ↗

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.Semantic proximity Read ↗

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