Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 ha...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carrier Proteins
Share to Chromosomes, Human, X
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Transport Proteins

Share to Mutation

Share to Osteochondrodysplasias

Share to Transcription Factors

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12939648-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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 ↗

⌁Select a neighboring publication to make it the new centre.