A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290

CEP290 is a ciliary gene frequently mutated in ciliopathies, resulting in a broad range of phenotypes, ranging from isolated inherited retinal disorders (IRDs) to severe or lethal syndromes with multisystemic involvement. Patients with non-syndromic CEP290-linked disease experience profound and earl...

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Detaylı Bibliyografya
Yayımlandı:Genes (Basel)
Asıl Yazarlar: Rafalska, Agnieszka, Tracewska, Anna M., Turno-Kręcicka, Anna, Szafraniec, Milena J., Misiuk-Hojło, Marta
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI 2020
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7690422/
https://ncbi.nlm.nih.gov/pubmed/33105651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11111240
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