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Article

Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2014

Wang Dong, Qin Jie, Zhao Chenguang, He Xijing

Abstract excerpt

BACKGROUND: Multiple epiphyseal dysplasia (MED) is one of the common hereditary osteochondrodysplasias. Mutations in diastrophic dysplasia sulfate transporter gene (DTDST) result in recessive MED. OBJECTIVE: To investigate the possible gene mutation in a recessive MED patient. SUBJECTS: A boy with typical clinical features of recessive MED and his parents. METHODS: Clinical and radiological evaluations, DTDST...

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PMID: 23934641
DOI: 10.1515/jpem-2013-0006

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