Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies

The retinal dystrophy phenotype associated with CDHR1 retinopathy is clinically heterogenous. In this study, we describe the clinical and molecular findings of a retinal dystrophy cohort (10 patients) attributed to autosomal recessive CDHR1 and report novel variants in populations not previously ide...

Descripción completa

Detalles Bibliográficos
Autores principales: Malechka, Volha V., Cukras, Catherine A., Chew, Emily Y., Sergeev, Yuri V., Blain, Delphine, Jeffrey, Brett G., Ullah, Ehsan, Hufnagel, Robert B., Brooks, Brian P., Huryn, Laryssa A., Zein, Wadih M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140808/
https://www.ncbi.nlm.nih.gov/pubmed/35627310
http://dx.doi.org/10.3390/genes13050925

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140808/
https://www.ncbi.nlm.nih.gov/pubmed/35627310
http://dx.doi.org/10.3390/genes13050925

Ejemplares similares