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

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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 inheritanc...

Topics

Abnormalities, Multiple
Alleles
Consanguinity
Dwarfism
Female
Gait
Genes, Recessive
Hand Deformities, Congenital
Homozygote
Humans
Leg
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Osteoarthritis

Osteochondrodysplasias

Pakistan

Pedigree

Radiography

Scoliosis

Source

Open in PubMed

Identifiers

PMID: 9714015

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9714015-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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