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Article

Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.

American journal of medical genetics. Part A - 30 Aug 2004

Macías-Gómez Nelly Margarita, Mégarbané André, Leal-Ugarte Evelia, Rodríguez-Rojas Lisa Ximena, Barros-Núñez Patricio

Abstract excerpt

The osteochondrodysplasias represent a heterogeneous group of cartilage and bone diseases. Among these, achondrogenesis 1B, atelosteogenesis type II, diastrophic dysplasia, and autosomal recessive multiple epiphyseal dysplasia are caused by mutations in the solute carrier family 26 (sulfate trans...

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Identifiers

PMID: 15316973
DOI: 10.1002/ajmg.a.30149

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15316973-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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