Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration

IMPORTANCE: The PROM1 gene, commonly associated with cone-rod dystrophies, may have dominant or recessive phenotypes that influence disease onset and severity. OBJECTIVE: To characterize the clinical phenotype and molecular genetic variations in patients with PROM1 variants. DESIGN, SETTING, AND PAR...

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Enregistré dans:
Détails bibliographiques
Publié dans:JAMA Netw Open
Auteurs principaux: Cehajic-Kapetanovic, Jasmina, Birtel, Johannes, McClements, Michelle E., Shanks, Morag E., Clouston, Penny, Downes, Susan M., Charbel Issa, Peter, MacLaren, Robert E.
Format: Artigo
Langue:Inglês
Publié: American Medical Association 2019
Sujets:
Original Investigation
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6575153/
https://ncbi.nlm.nih.gov/pubmed/31199449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamanetworkopen.2019.5752
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