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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genes (Basel)
Egile Nagusiak: Downes, Susan M., Nguyen, Tham, Tai, Vicky, Broadgate, Suzanne, Shah, Mital, Al-Khuzaei, Saoud, MacLaren, Robert E., Shanks, Morag, Clouston, Penny, Halford, Stephanie
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2020
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7763961/
https://ncbi.nlm.nih.gov/pubmed/33322828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11121497
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