Dominant deafness-onychodystrophy syndrome caused by anATP6V1B2mutation-Reference-Cited by-同舟云学术

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Dominant deafness-onychodystrophy syndrome caused by anATP6V1B2mutation

Published:2017-02-08 Issue:4 Volume:5 Page:376-379
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Menendez Ibis¹,Carranza Claudia²,Herrera Mariana²,Marroquin Nely²,Foster Joseph¹,Cengiz Filiz Basak¹,Bademci Guney¹,Tekin Mustafa¹³

Affiliation:

1. John P. Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami Florida USA

2. Institute for Research on Genetic and Metabolic Diseases; INVEGEM; Guatemala City Guatemala

3. Department of Human Genetics; Dr. John T. Macdonald Foundation; University of Miami Miller School of Medicine; Miami Florida USA

Funder

INVEGEM

The Rozas-Botran Foundation

National Institutes of Health

Publisher

Wiley

Subject

General Medicine

Reference10 articles.

1. DOOR Syndrome (Deafness, Onycho-Osteodystrophy, and Mental Retardation): a new patient and delineation of neurologic variability among recessive cases;Lin;Am. J. Med. Genet.,1993

2. A Danish family with dominant deafness-onychodystrophy syndrome;Vind-Kezunovic;J. Dermatol. Case Rep.,2013

3. Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome;White;Am. J. Med. Genet. A,2011

4. The genetic bases of DOORS syndrome: an exome sequencing study;Campeau;Lancet Neurol.,2014

5. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome;Kortṻm;Nat. Genet.,2015

Cited by 23 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. ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview;Brain and Development;2023-11

2. A heterozygous pathogenic variant in the ATP6V1A gene triggering epilepsy in a large Chinese pedigree;Clinical Neurology and Neurosurgery;2023-10

3. The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice;Genes;2023-07-27

4. Determinants, maintenance, and function of organellar pH;Physiological Reviews;2023-01-01

5. A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype;American Journal of Medical Genetics Part A;2022-09-22

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