Associated Papers
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Characterizing and expanding the neurological clinical spectrum of PHARC syndrome: a systematic review.
Mendes Ferreira V et al.
Acta Neurologica Belgica, 2025
Bioinformatics Analysis Identifies Sequence Determinants of Enzymatic Activity for the PHARC-Associated Lipase ABHD12.
Chakraborty A et al.
Biochemistry, 2025
PHARC syndrome: an overview.
Harutyunyan L et al.
Orphanet Journal of Rare Diseases, 2024
Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.
Long X et al.
Bmc Medical Genomics, 2024
Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12.
Daneshi A et al.
Bmc Medical Genomics, 2023
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Igelman AD et al.
Ophthalmic Genetics, 2021
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