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

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.

American journal of medical genetics - 6 Aug 1998

Ahmad M, Faiyaz Ul Haque M, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin D L, Lachman R S, Cohn D H

Abstract excerpt

We describe a large inbred kindred from a remote area of Pakistan, comprising eight generations, with a distinct form of spondyloepimetaphyseal dysplasia (SEMD). We evaluated 16 affected individuals: 11 males and 5 females. Analysis of the pedigree strongly suggests autosomal recessive inheritance, and consanguineous loops could account for all the affected individuals being homozygous for the abnormal allele....

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Alleles

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

Share to Consanguinity

Share to Genes, Recessive

Share to Homozygote

Share to Osteochondrodysplasias

Share to Pedigree

Share to Radiography

Source

Identifiers

PMID: 9714015

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

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.PMID 9714015Read ↗

Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.Semantic proximity Read ↗

Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation.Semantic proximity Read ↗

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.Semantic proximity Read ↗

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

A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.Semantic proximity Read ↗

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.Semantic proximity Read ↗

Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.Semantic proximity Read ↗

Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild.Semantic proximity Read ↗

Clinical and genetic investigation of 14 families with various forms of short stature syndromes.Semantic proximity Read ↗

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

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.Semantic proximity Read ↗

A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.Semantic proximity Read ↗

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