Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

PURPOSE: Stickler syndrome is a collagenopathy that is typically COL2A1‐related (autosomal dominant) and less commonly related to other collagen gene mutations. Diagnosis is straightforward when a child has myopia or retinal detachment in the setting of classic diagnostic criteria such as hearing im...

Descripción completa

Detalles Bibliográficos
Autores principales: Khan, Arif O., AlAbdi, Lama, Patel, Nisha, Helaby, Rana, Hashem, Mais, Abdulwahab, Firdous, AlBadr, Fahad B., Alkuraya, Fowzan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172201/
https://www.ncbi.nlm.nih.gov/pubmed/33951325
http://dx.doi.org/10.1002/mgg3.1628

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172201/
https://www.ncbi.nlm.nih.gov/pubmed/33951325
http://dx.doi.org/10.1002/mgg3.1628

Ejemplares similares