Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing

BACKGROUND: Classical Ehlers–Danlos syndrome (cEDS) is a connective tissue disorder mainly caused by heterozygous COL5A1 or COL5A2 variants encoding type V collagen and rarely by the p.(Arg312Cys) missense substitution in COL1A1 encoding type I collagen. The current EDS nosology specifies that minim...

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Detalles Bibliográficos
Autores principales: Ritelli, Marco, Cinquina, Valeria, Venturini, Marina, Colombi, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549590/
https://www.ncbi.nlm.nih.gov/pubmed/32720758
http://dx.doi.org/10.1002/mgg3.1422

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549590/
https://www.ncbi.nlm.nih.gov/pubmed/32720758
http://dx.doi.org/10.1002/mgg3.1422

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