Condition: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract


rs1555817157 in ABHD12 gene and Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

PMID 27890673 2017 Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.

PMID 25743180 2015 Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

PMID 24027063 2013 Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.

PMID 20797687 2010 Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

PMID 22938382 2012 Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

PMID 24697911 2014 Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.