PHARC Syndrome, a Rare Genetic Disorder—Case Report-Reference-Cited by-同舟云学术

PHARC Syndrome, a Rare Genetic Disorder—Case Report

Published:2021-07-09 Issue:6 Volume:8 Page:977-979
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Mov Disord Clin Pract

Author:

Dias Bastos Paulo André¹²,Mendonça Marcelo²³⁴,Lampreia Tânia⁵,Magriço Marta²,Oliveira Jorge⁶,Barbosa Raquel²³

Affiliation:

1. NOVA Medical School, Faculdade de Ciências Médicas Universidade Nova de Lisboa Lisbon Portugal

2. Department of Neurology, Hospital de Egas Moniz Centro Hospitalar de Lisboa Ocidental Lisbon Portugal

3. CEDOC—NOVA Medical School, Faculdade de Ciências Médicas Universidade Nova de Lisboa Lisbon Portugal

4. Champalimaud Research, Champalimaud Centre for the Unknown Lisbon Portugal

5. Department of Neurology Hospital Beatriz Ângelo Lisbon Portugal

6. Center for Predictive and Preventive Genetics (CGPP) Institute for Molecular and Cell Biology (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto Porto Portugal

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13266

Reference5 articles.

1. Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

2. A novel Refsum-like disorder that maps to chromosome 20

3. A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature

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

5. Two Novel Mutations inABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

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

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

3. 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

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

5. Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12;BMC Medical Genomics;2023-10-06