Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.

Journal of Korean medical science - 1 Jul 2010

Cho Tae-Joon, Kim Ok-Hwa, Lee Hye-Ran, Shin Sung Jin, Yoo Won Joon, Park Woong Yang, Park Sung Sup, Cho Sung Im, Choi In Ho

Abstract excerpt

Multiple epiphyseal dysplasia is caused by heterogeneous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors report a 9-yr old Korean girl with the rMED phenotype having novel compound heterozygous mutations in the DTDST gene, which were inherited from both parents. This is the first Korean rMED case...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anion Transport Proteins
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genes, Recessive

Share to Heterozygote

Share to Osteochondrodysplasias

Share to Sulfate Transporters

Source

Open in PubMed Open full text

Identifiers

PMID: 20592910
DOI: 10.3346/jkms.2010.25.7.1105
PMCID: PMC2890895

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.PMID 20592910Read ↗

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.Semantic proximity Read ↗

Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.Semantic proximity Read ↗

SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.Semantic proximity Read ↗

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).Semantic proximity Read ↗

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

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.Semantic proximity Read ↗

Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia.Semantic proximity Read ↗

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.Semantic proximity Read ↗

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.Semantic proximity Read ↗

A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.Semantic proximity Read ↗

Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation.Semantic proximity Read ↗

Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.