Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family

BACKGROUND: Stickler syndrome is a group of connective tissue disorders that can affect eye (myopia, cataract, and retinal detachment), skeleton (spondyloepiphyseal dysplasia and precocious arthritis), craniofacies (midfacial under development and cleft palate), and inner ear (conductive and sensori...

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Detalles Bibliográficos
Autores principales: Wu, Hong, Che, Songtian, Li, Shuchun, Cheng, Yan, Xiao, Jun, Liu, Zaoxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580100/
https://www.ncbi.nlm.nih.gov/pubmed/34405586
http://dx.doi.org/10.1002/mgg3.1781

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580100/
https://www.ncbi.nlm.nih.gov/pubmed/34405586
http://dx.doi.org/10.1002/mgg3.1781

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