Case report: <i>De novo</i> pathogenic variant in <i>WFS1</i> causes Wolfram-like syndrome debuting with congenital bilateral deafness.

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第一作者： Laura,Alías

第一单位： Genetics Department, IIB Sant Pau, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.

作者： Laura,Alías ^[1] ; Miguel,López de Heredia ^[2] ; Sabina,Luna ^[3] ; Núria,Clivillé ^[4] ; Lídia,González-Quereda ^[1] ; Pía,Gallano ^[1] ; Júlia,de Juan ^[2] ; Albert,Pujol ^[1] ; Santiago,Diez ^[2] ; Susana,Boronat ^[5] ; César,Orús ^[5] ; Adriana,Lasa ^[6] ; María Del Prado,Venegas ^[7]

作者单位： Genetics Department, IIB Sant Pau, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain. ^[1] U705-Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. ^[2] Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. ^[3] Ophthalmology Department, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain. ^[4] Otorhinolaringologyst Department, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain. ^[5] Otorhinolaringology Department, Hospital Esperit Sant, Santa Coloma de Gramenet, Spain. ^[6] Child Neurology Unit, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain. ^[7]

关键词 NGS WFS1 gene Wolfram-like syndrome congenital hearing loss optic atrophy

DOI 10.3389/fgene.2022.998898

PMID 36330437

发布时间 2022-11-05

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Frontiers in genetics

2022年13卷

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Case report: <i>De novo</i> pathogenic variant in <i>WFS1</i> causes Wolfram-like syndrome debuting with congenital bilateral deafness.

Frontiers in genetics

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Frontiers in genetics

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Case report: <i>De novo</i> pathogenic variant in <i>WFS1</i> causes Wolfram-like syndrome debuting with congenital bilateral deafness.

Frontiers in genetics

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Frontiers in genetics

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