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Article

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.

Nature genetics - 1 Oct 1998

Faiyaz ul Haque M, King L M, Krakow D, Cantor R M, Rusiniak M E, Swank R T, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn D H

Abstract excerpt

The osteochondrodysplasias are a genetically heterogeneous group of disorders affecting skeletal development, linear growth and the maintenance of cartilage and bone. We have studied a large inbred Pakistani family with a distinct form of recessively inherited spondyloepimetaphyseal dysplasia (SEMD) and mapped a gene associated with this dwarfing condition to chromosome 10q23-24, a region syntenic with the locus...

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PMID: 9771708
DOI: 10.1038/2458

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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