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

Human molecular genetics - 15 Mar 2005

Forlino Antonella, Piazza Rocco, Tiveron Cecilia, Della Torre Sara, Tatangelo Laura, Bonafè Luisa, Gualeni Benedetta, Romano Assunta, Pecora Fabio, Superti-Furga Andrea, Cetta Giuseppe, Rossi Antonio

Abstract excerpt

Mutations in the diastrophic dysplasia sulfate transporter (DTDST or SLC26A2) cause a family of recessively inherited chondrodysplasias including, in order of decreasing severity, achondrogenesis 1B, atelosteogenesis 2, diastrophic dysplasia (DTD) and recessive multiple epiphyseal dysplasia. The gene encodes a widely distributed sulfate/chloride antiporter of the cell membrane whose function is crucial for the...

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PMID: 15703192
DOI: 10.1093/hmg/ddi079

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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