Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome

Musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) is a recently recognised connective tissue disorder. MC-EDS is caused by homozygous or compound heterozygous mutation in the carbohydrate sulfotransferase 14 (CHST14) gene on chromosome 15q15. Herein, we report a case of a 3-year-old boy wi...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMJ Case Rep
Prif Awduron: Sandal, Sapna, Kaur, Anupriya, Panigrahi, Inusha
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2018
Pynciau:
Rare Disease
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6157554/
https://ncbi.nlm.nih.gov/pubmed/30249733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-226165
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