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

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

American journal of human genetics - 1 Jul 1999

Turnpenny P D, Bulman M P, Frayling T M, Abu-Nasra T K, Garrett C, Hattersley A T, Ellard S

Abstract excerpt

In spondylocostal dysostosis (SD), vertebral-segmentation defects are associated with rib anomalies. This results in short-trunk short stature, nonprogressive kyphoscoliosis, and radiological features of multiple hemivertebrae and rib fusions. SD can be familial, and both autosomal dominant and autosomal recessive (AR) inheritance have been reported, but no genes have been identified or localized for nonsyndromic...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 19
Share to Dysostoses

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Genetic Markers

Share to Lod Score

Share to Radiography

Source

Open in PubMed Open full text

Identifiers

PMID: 10364530
DOI: 10.1086/302464
PMCID: PMC1378088

Genes

ARSD

Provenance

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.PMID 10364530Read ↗

Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13Semantic proximity Read ↗

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.Semantic proximity Read ↗

Mutated MESP2 causes spondylocostal dysostosis in humans.Semantic proximity Read ↗

Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.Semantic proximity Read ↗

Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in HumansSemantic proximity Read ↗

Abnormal vertebral segmentation and the notch signaling pathway in man.Semantic proximity Read ↗

Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.Semantic proximity Read ↗

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.Semantic proximity Read ↗

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.Semantic proximity Read ↗

Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.Semantic proximity Read ↗

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.Semantic proximity Read ↗

Defective somitogenesis and abnormal vertebral segmentation in man.Semantic proximity Read ↗

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