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Article

A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.

American journal of medical genetics. Part A - 1 Jun 2006

Maeda Koichi, Miyamoto Yoshinari, Sawai Hideaki, Karniski Lawrence P, Nakashima Eiji, Nishimura Gen, Ikegawa Shiro

Abstract excerpt

Diastrophic dysplasia sulfate transporter (DTDST) is a sulfate transporter required for the synthesis of sulfated proteoglycans in the cartilage. Over 30 mutations have been described in the DTDST gene, which result in a continuous clinical spectrum of recessively inherited chondrodysplasias, including, in order of increasing severity, a recessive form of multiple epiphyseal dysplasia (rMED), diastrophic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 16642506
DOI: 10.1002/ajmg.a.31225

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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