Multi‐exon COL5A1 deletion in a child with classical Ehlers–Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism

Multi‐exon COL5A1 deletion in a child with classical Ehlers–Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism

Abstract Classical Ehlers–Danlos syndrome (cEDS) is a rare inherited autosomal dominant connective tissue disorder with core clinical features including skin hyperextensibility, abnormal scarring, and generalized joint hypermobility. Classical EDS is predominantly caused by small pathogenic variants...

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Bibliographic Details
Main Authors: Sonja Strang‐Karlsson, Sylvia Keigwin, Anna‐Kaisa Anttonen, Duncan Baker, Kerry Bean, Eveliina Jakkula
Format: Article
Language:English
Published: Wiley 2022-10-01
Series:Clinical Case Reports
Subjects:
collagen type V
Ehlers–Danlos syndrome
germline mosaicism
gonosomal mosaicism
Online Access:https://doi.org/10.1002/ccr3.6455

Internet

https://doi.org/10.1002/ccr3.6455

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