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Article

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.

Human genetics - 1 Dec 1996

Rossi A, van der Harten H J, Beemer F A, Kleijer W J, Gitzelmann R, Steinmann B, Superti-Furga A

Abstract excerpt

Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B (ACG1B). To learn more about the m...

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Identifiers

PMID: 8931695
DOI: 10.1007/s004390050279

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8931695-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.PMID 8931695Read ↗

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A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.Semantic proximity Read ↗

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.Semantic proximity Read ↗

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