This article is a review of the genes and genetic disorders that affect hearing in humans and
a few selected mouse models of deafness. Genetics is playing an increasingly critical role in …

Rigoli L, Lombardo F, Di Bella C. Wolfram syndrome and WFS1 gene. Wolfram syndrome
(WS)(MIM 222300) is a rare multisystem neurodegenerative disorder of autosomal recessive …

Background Wolfram syndrome (WFS) is a rare autosomal recessive disease with clinical
manifestations of diabetes mellitus (DM), diabetes insipidus (DI), optic nerve atrophy (OA) …

Wolfram syndrome or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and
deafness) is a neurodegenerative disorder characterized by diabetes mellitus and optic …

Abstract Non Syndromic Hearing Loss is an important cause for hearing loss. One in 1000
newborns have some hearing impairment. Over 400 genetic syndromes have been …

Purpose To describe the phenotype of a novel Wolframin (WFS1) mutation in a family with
autosomal dominant optic neuropathy and deafness. The study is designed as a …

Diabet. Med. 28, 1337–1342 (2011) Abstract Aims Wolfram syndrome, also known as
DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in …

The aim of this study is to contribute to a better description of the genotypic and phenotypic
spectrum of DFNA6/14/38 and aid in counseling future patients identified with this variant …

Hearing loss (HL) is the most common sensory disorder, affecting all age groups, ethnicities,
and genders. According to World Health Organization (WHO) estimates in 2005, 278 million …

Purpose To report a case of Wolfram syndrome (WS) characterized by diabetes mellitus,
diabetes insipidus, progressive optic atrophy, and deafness. Case report A 19-year-old …