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

Abstract:

: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 attributed to DTDST mutations, and expands the spectrum of diseases caused by DTDST mutations.

journal_name

J Korean Med Sci

authors

Cho TJ,Kim OH,Lee HR,Shin SJ,Yoo WJ,Park WY,Park SS,Cho SI,Choi IH

doi

10.3346/jkms.2010.25.7.1105

subject

Has Abstract

pub_date

2010-07-01 00:00:00

pages

1105-8

issue

7

eissn

1011-8934

issn

1598-6357

journal_volume

25

pub_type

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