Identification of a de novo case of COL5A1 -related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care-Reference-Cited by-同舟云学术

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Identification of a de novo case of COL5A1 -related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care

Published:2018-10-15 Issue:11 Volume:6 Page:2256-2261
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Wardeh Amr¹^ORCID,Jackson Tyson¹,Nelson Beverly²,Ernst Carl³,Théroux Jean-François³,Al-Hertani Walla⁴,Sobering Andrew K.¹,Maj Mary C.¹

Affiliation:

1. Department of Biochemistry; St. George’s University; St. George’s Grenada

2. Pediatrics Ward; Grenada General Hospital; St. George's Grenada

3. Department of Psychiatry; McGill University; Montreal Québec Canada

4. Department of Medical Genetics, Cummings School of Medicine; University of Calgary, Alberta Children's Hospital; Calgary Alberta Canada

Publisher

Wiley

Subject

General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.1873/fullpdf

Reference31 articles.

1. Hypermobility, the Ehlers-Danlos syndromes and chronic pain;Syx;Clin Exp Rheumatol,2017

2. Ehlers-Danlos syndromes: revised nosology, villefranche, 1997;Beighton;Am J Med Genet,1998

3. Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome;Vogel;Lab Invest,1979

4. Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly;Andrikopoulos;Nat Genet,1995

5. The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II;Burrows;J Invest Dermatol,1996

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Naturally occurring genetic diseases caused by de novo variants in domestic animals;Animal Genetics;2024-02-07

2. A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay;Molecular Genetics & Genomic Medicine;2022-02-21

3. Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-12

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