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| http://dx.doi.org/10.1186/s13023-024-03491-5 | DOI Listing |
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Correction to: PHARC syndrome: an overview.
Orphanet J Rare Dis
January 2025
Laboratory for Behavioral and Developmental Genetics, Department of Human Genetics, KU Leuven, Louvain, Belgium.
The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in : An Ophthalmic Perspective.
Genes (Basel)
September 2021
Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
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 gene. A total of 15 patients from 12 different families were included, with a mean age of 36.7 years (standard deviation [SD] ± 11.
View Article and Find Full Text PDFExome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Ophthalmology
August 2014
Department of Genetics, IIS-Fundación Jiménez Díaz, CIBERER, Madrid, Spain. Electronic address:
Objective: To identify the genetic causes underlying autosomal recessive retinitis pigmentosa (arRP) and to describe the associated phenotype.
Design: Case series.
Participants: Three hundred forty-seven unrelated families affected by arRP and 33 unrelated families affected by retinitis pigmentosa (RP) plus noncongenital and progressive hearing loss, ataxia, or both, respectively.
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