Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene-Reference-Cited by-同舟云学术

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Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene

Published:2018-04 Issue: Volume:387 Page:134-138
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Frasquet Marina^ORCID,Lupo Vincenzo,Chumillas María José,Vázquez-Costa Juan Francisco,Espinós Carmen,Sevilla Teresa

Funder

Instituto de Salud Carlos III

Fundación para la Investigación del Hospital Universitari La Fe

Instituto de Investigación Sanitaria La Fe

ISCIII

Centro de Investigación Príncipe Felipe

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference17 articles.

1. A novel Refsum-like disorder that maps to chromosome 20;Fiskerstrand;Neurology,2009

2. Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism;Fiskerstrand;Am. J. Hum. Genet.,2010

3. Exome sequencing extends the phenotypic Spectrum for ABHD12 mutations from syndromic to nonsyndromic retinal degeneration;Nishiguchi;Ophthalmology,2014

4. 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;Eisenberger;Orphanet. J. Rare Dis.,2012

5. Novel ABHD12 mutations in PHARC patients;Yoshimura;Ann. Otol. Rhinol. Laryngol.,2015

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants;BMC Medical Genomics;2024-08-09

2. Suppressing phagocyte activation by overexpressing the phosphatidylserine lipase ABHD12 preserves sarmopathic nerves;2024-06-25

3. Lysophosphatidylserine: A Signaling Lipid with Implications in Human Diseases;Chemical Reviews;2024-04-12

4. Unilateral Cataract and Retinitis Pigmentosa in a Patient With Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Syndrome: A Case Report;Cureus;2024-02-16

5. PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature;Ophthalmic Genetics;2024-01-08

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