Clinical Genetics, EarlyView.Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam +9 more
wiley +1 more source
Evaluation of the prevalence of congenital sensorineural deafness in a population of 72 client-owned purebred white cats examined from 2007 to 2021. [PDF]
BMC Vet Res, 2022 Annemarie K +3 more
europepmc +1 more source
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity
Clinical Genetics, EarlyView.A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis +14 more
wiley +1 more source
Recent Advances in the Treatment of Sensorineural Deafness
Annals of the Academy of Medicine, Singapore, 2005 In the developed world, there are currently more than 100 million people afflicted with hearing loss. In the United States and European Community alone, there are an estimated 21 million people with significant conductive hearing loss, whilst there are over 90 million suffering from moderate to severe sensorineural hearing loss.
openaire +2 more sources
Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1
Movement Disorders Clinical Practice, EarlyView.
Giulia Scacciatella +15 more
wiley +1 more source
Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome
Clinical Genetics, EarlyView.Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato +15 more
wiley +1 more source
Screening for sensorineural deafness by health visitors. The Steering Committee, Oxford Region Child Development Project. [PDF]
, 1990 Margaret Johnson, Hazel Ashurst
openalex +1 more source
Implication of GPRASP2 in the Proliferation and Hair Cell‐Forming of Cochlear Supporting Cells
Cell Proliferation, EarlyView.Schematic diagram of GPRASP2‐mediated SCs proliferation and HCs formation. GPRASP2 deficiency results in increased lysosomal degradation of SMO. GPRASP2‐mediated SMO/GLI1 signalling promotes SC proliferation, which contributes to HC formation. GPRASP2‐mediated SMO/β‐catenin signalling is implicated in HCs fate specification and differentiation ...
Jing Cai +9 more
wiley +1 more source
HDR Syndrome Accompanying Type 1 Diabetes Mellitus and Hypopituitarism
Case Reports in Endocrinology, 2019 HDR (Hypoparathyroidism, Deafness, and Renal Dysplasia) syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal disease. Approximately 65% of patients with HDR syndrome have all three
Mustafa Can +5 more
doaj +1 more source
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness. [PDF]
Ann Clin Transl Neurol, 2021 Nardecchia F +7 more
europepmc +1 more source