Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2

Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2

Abstract We described a novel de novo missense variant of the gene encoding Collagen alpha‐2(V) chain, associated with the classical Ehlers–Danlos syndrome (cEDS) (OMIM#130010), in a 14‐year‐old patient who presented with congenital and severe scoliosis, muscle hypotonia, ocular manifestations, and...

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Bibliographic Details
Main Authors: Malika Foy, Philippe deMazancourt, Dominique Bremond Gignac, Fabrice Gillas, Nawel Trigui, Ahmed Mekki, Robert Carlier, Karelle Benistan
Format: Article
Language:English
Published: Wiley 2022-11-01
Series:Clinical Case Reports
Subjects:
classical Ehlers–Danlos syndrome
COL5A2
kyphoscoliosis
molecular modeling
next generation sequencing
Online Access:https://doi.org/10.1002/ccr3.6338

Internet

https://doi.org/10.1002/ccr3.6338

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