Musculocontractural type of <scp>Ehlers–Danlos</scp> syndrome with novel <scp><i>CHST14</i></scp> pathogenic variant in two siblings-Reference-Cited by-同舟云学术

Musculocontractural type of Ehlers–Danlos syndrome with novel CHST14 pathogenic variant in two siblings

Published:2024-06-16 Issue: Volume: Page:
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

KS Aswanth¹^ORCID,Sarkar Namrata²^ORCID,Bhatia Riti²,Singh Vivek³,Sharma Shruti⁴,Verma Prashant Kumar¹

Affiliation:

1. Department of Pediatrics All India Institute of Medical Sciences Rishikesh Uttarakhand India

2. Department of Dermatology, Venereology and Leprosy All India Institute of Medical Sciences Rishikesh Uttarakhand India

3. Department of Orthopedics All India Institute of Medical Sciences Rishikesh Uttarakhand India

4. ICMR, National Institute of Pathology, Safdarjung Hospital Campus New Delhi India

Abstract

AbstractMusculocontractural Ehlers–Danlos syndrome (MC‐EDS) is a rare entity worldwide with underlying pathogenic variant in the carbohydrate sulfotransferase 14 (CHST14) gene. Previous reports of the same entity from India were of two unrelated cases. Ours is the first report of two siblings in an Indian family with craniofacial dysmorphism and distal arthrogryposis with a clinical diagnosis of EDS, where an underlying pathogenic variant in CHST14 was detected by exome sequencing.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15653

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