PHARC Syndrome, a Rare Genetic Disorder-Case Report.

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作者： Paulo André,Dias Bastos ^[1] ; Marcelo,Mendonça ^[2] ; Tânia,Lampreia ^[2] ; Marta,Magriço ^[3] ; Jorge,Oliveira ^[4] ; Raquel,Barbosa ^[5]

作者单位： NOVA Medical School, Faculdade de Ciências Médicas Universidade Nova de Lisboa Lisbon Portugal. ^[1] Department of Neurology, Hospital de Egas Moniz Centro Hospitalar de Lisboa Ocidental Lisbon Portugal. ^[2] CEDOC-NOVA Medical School, Faculdade de Ciências Médicas Universidade Nova de Lisboa Lisbon Portugal. ^[3] Champalimaud Research, Champalimaud Centre for the Unknown Lisbon Portugal. ^[4] Department of Neurology Hospital Beatriz Ângelo Lisbon Portugal. ^[5] 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. ^[6]

关键词 ABHD12 PHARC ataxia deaf‐blindness polyneuropathy

DOI 10.1002/mdc3.13266

PMID 34405110

发布时间 2022-07-16

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Movement disorders clinical practice

2021年8卷6期

977-979页

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PHARC Syndrome, a Rare Genetic Disorder-Case Report.

Movement disorders clinical practice

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PHARC Syndrome, a Rare Genetic Disorder-Case Report.

Movement disorders clinical practice

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Movement disorders clinical practice

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