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Article

New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.

American journal of medical genetics. Part A - 1 Dec 2010

Czarny-Ratajczak Malwina, Bieganski Tadeusz, Rogala Piotr, Glowacki Maciej, Trzeciak Tomasz, Kozlowski Kazimierz

Abstract excerpt

DTDST mutations cause a spectrum of diastrophic dysplasia disorders characterized by defects of proteoglycans sulfation. Reduction of sulfate/chloride antiporter activity is manifested by lower sulfate uptake and depends on a combination of mutations in DTDST. We analyzed a family with an autosom...

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Identifiers

PMID: 21077204
DOI: 10.1002/ajmg.a.33707

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-21077204-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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