Autosomal‐dominant WFS1 ‐related disorder—Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms-Reference-Cited by-同舟云学术

Autosomal‐dominant WFS1 ‐related disorder—Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms

Published:2020-11-11 Issue:2 Volume:185 Page:528-533
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Abu‐El‐Haija Aya¹²^ORCID,McGowan Caroline¹,Vanderveen Deborah³,Bodamer Olaf¹^ORCID

Affiliation:

1. Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital Boston MA USA

2. Department of Medical Oncology Dana Farber Cancer Institute Boston MA USA

3. Department of Ophthalmology Boston Children's Hospital Boston MA USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61945

Reference33 articles.

1. A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

2. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome

3. Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans

4. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

5. Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation

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1. Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A;American Journal of Ophthalmology Case Reports;2024-06

2. Novel genetic syndrome manifesting with cerebral atrophy, cataract, hypoacusis, diabetes, and brachy-/syndactyly;Journal of Family Medicine and Primary Care;2023-12

3. Wolfram syndrome type 1: a case series;Orphanet Journal of Rare Diseases;2023-11-16

4. Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum;Survey of Ophthalmology;2023-07

5. Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant;Stem Cell Research;2023-06