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Article

Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.

American journal of medical genetics. Part A - 1 Oct 2013

Tanteles George A, Dixit Abhijit, Dhar Sunil, Suri Mohnish

Abstract excerpt

Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotranferase) has been associated with a phenotype of severe chondrodysplasia and progressive spinal involvement. Recent reports indicate that affected individuals initially present with neonatal multiple joint dislocations. We describe a 14-year-old Somali patient and her 3-year-old maternal half-brother with novel homozygous...

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Identifiers

PMID: 23918704
DOI: 10.1002/ajmg.a.36094

Genes

CHST3

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