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Article

Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.

Journal of medical genetics - 1 Jul 2018

Shabbir Rana Muhammad Kamran, Nalbant Gökhan, Ahmad Nafees, Malik Sajid, Tolun Aslıhan

Abstract excerpt

BACKGROUND: Carbohydrate sulfotransferase 11 (CHST11) is a membrane protein of Golgi that catalyses the transfer of sulfate to position 4 of the N-acetylgalactosamine residues of chondroitin. Chondroitin sulfate is the predominant proteoglycan in cartilage, and its sulfation is important in the developing growth plate of cartilage. A homozygous deletion encompassing part of the gene and the embedded miRNA MIR3922...

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Identifiers

PMID: 29514872
DOI: 10.1136/jmedgenet-2017-105003

Genes

CHST11

Variants

Provenance

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