Discover Community Create You

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

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.

Nature genetics - 1 Aug 1999

Gedeon A K, Colley A, Jamieson R, Thompson E M, Rogers J, Sillence D, Tiller G E, Mulley J C, Gécz J

Abstract excerpt

Spondyloepiphyseal dysplasia tarda (SEDL; MIM 313400) is an X-linked recessive osteochondrodysplasia that occurs in approximately two of every one million people. This progressive skeletal disorder which manifests in childhood is characterized by disproportionate short stature with short neck and trunk, barrel chest and absence of systemic complications. Distinctive radiological signs are platyspondyly with...

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 Genetic Linkage
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Transport Proteins

Share to Osteochondrodysplasias

Share to Sequence Homology, Amino Acid

Share to Tissue Distribution

Share to X Chromosome

Source

Identifiers

PMID: 10431248
DOI: 10.1038/11976

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.PMID 10431248Read ↗

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

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).Semantic proximity Read ↗

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

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

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

A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.Semantic proximity Read ↗

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

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

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

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.Semantic proximity Read ↗

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

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