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Article

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

Clinical genetics - 1 Mar 2015

Mäkitie O, Geiberger S, Horemuzova E, Hagenäs L, Moström E, Nordenskjöld M, Grigelioniene G, Nordgren A

Abstract excerpt

Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. SLC26A2 mutations also result in other skeletal dysplasias, including the milder recessive multiple epiphyseal dysplasia (rMED). DTD is overrepresented in Finland and we speculated that this may have influenced the...

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PMID: 24598000
DOI: 10.1111/cge.12371

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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