Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
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Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatmentA neurodegenerative perspective on mitochondrial optic neuropathiesWolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humansDominant optic atrophy.Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?Genetic Counseling for Diabetes Mellitus.Medical management of hereditary optic neuropathies.Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.The optic nerve: a "mito-window" on mitochondrial neurodegenerationWhole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating.Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1.Genetic and phenotypic variability of optic neuropathies.Genetic investigations in childhood deafness.Republished: Genetic investigations in childhood deafness.Clinical utility gene card for: Wolfram syndrome.A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1.WFS1 mutations in hearing-impaired children.Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.Wolfram syndrome: MAMs' connection?Longitudinal hearing loss in Wolfram syndrome.
P2860
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P2860
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
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2011年學術文章
@zh-hant
name
Identification of p.A684V miss ...... trophy and hearing impairment.
@en
Identification of p.A684V miss ...... trophy and hearing impairment.
@nl
type
label
Identification of p.A684V miss ...... trophy and hearing impairment.
@en
Identification of p.A684V miss ...... trophy and hearing impairment.
@nl
prefLabel
Identification of p.A684V miss ...... trophy and hearing impairment.
@en
Identification of p.A684V miss ...... trophy and hearing impairment.
@nl
P2093
P2860
P356
P1476
Identification of p.A684V miss ...... trophy and hearing impairment.
@en
P2093
Arti Pandya
Claes Möller
Helene Bruhn
Houda Boulahbel
Ida R Johansen
Katherine O Welch
Kathleen S Arnos
Kristina Eriksson
Lars Hansen
Lisbeth Tranebjaerg
P2860
P304
P356
10.1002/AJMG.A.33970
P407
P577
2011-04-28T00:00:00Z