The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective

This study investigated the phenotypic spectrum of PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and early-onset cataract) syndrome caused by biallelic variants in the ABHD12 gene. A total of 15 patients from 12 different families were included, with a mean age of 36.7 years (sta...

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Detalles Bibliográficos
Autores principales: Nguyen, Xuan-Thanh-An, Almushattat, Hind, Strubbe, Ine, Georgiou, Michalis, Li, Catherina H. Z., van Schooneveld, Mary J., Joniau, Inge, De Baere, Elfride, Florijn, Ralph J., Bergen, Arthur A., Hoyng, Carel B., Michaelides, Michel, Leroy, Bart P., Boon, Camiel J. F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467809/
https://www.ncbi.nlm.nih.gov/pubmed/34573385
http://dx.doi.org/10.3390/genes12091404

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