Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

Autosomal recessive retinitis pigmentosa is caused by mutations in over 40 genes, one of which is the ceramide kinase-like gene (CERKL). We present a case series of six patients from six unrelated families diagnosed with inherited retinal dystrophies (IRD) and with two variants in CERKL recruited fr...

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Detalles Bibliográficos
Autores principales: Downes, Susan M., Nguyen, Tham, Tai, Vicky, Broadgate, Suzanne, Shah, Mital, Al-Khuzaei, Saoud, MacLaren, Robert E., Shanks, Morag, Clouston, Penny, Halford, Stephanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763961/
https://www.ncbi.nlm.nih.gov/pubmed/33322828
http://dx.doi.org/10.3390/genes11121497

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