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

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 in the g...

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Detalles Bibliográficos
Autores principales: Strang‐Karlsson, Sonja, Keigwin, Sylvia, Anttonen, Anna‐Kaisa, Baker, Duncan, Bean, Kerry, Jakkula, Eveliina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552984/
https://www.ncbi.nlm.nih.gov/pubmed/36245460
http://dx.doi.org/10.1002/ccr3.6455

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