Multi‐exon <i>COL5A1</i> deletion in a child with classical Ehlers–Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism-Reference-Cited by-同舟云学术

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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

Published:2022-10 Issue:10 Volume:10 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Strang‐Karlsson Sonja¹^ORCID,Keigwin Sylvia²,Anttonen Anna‐Kaisa¹,Baker Duncan²,Bean Kerry²,Jakkula Eveliina¹³

Affiliation:

1. Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland

2. Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK

3. Department of Medical and Clinical Genetics University of Helsinki Helsinki Finland

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.6455

Reference13 articles.

1. The 2017 international classification of the Ehlers-Danlos syndromes

2. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

3. Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

4. Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome

5. Frequency of de novo variants and parental mosaicism in vascular Ehlers–Danlos syndrome

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