Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/13506129.2015.1104661 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Heterozygous loss-of-function mutations are one established cause of isolated dystonia and hyposmia. Homozygous mutations have been reported in siblings with generalized dystonia and intellectual disability. encodes major [NM_001369387.
View Article and Find Full Text PDFIdentification of a Novel TRIT1 Mutation in a Consanguineous Iranian-Azeri-Turkish Family With Global Developmental Delay.
Int J Dev Neurosci
October 2025
Pediatric Health Research Center, Mardani Azari Children Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.
Global developmental delay (GDD) and intellectual disability (ID) affect up to 3% of the paediatric population, with a multifactorial aetiology that complicates genetic identification. To date, over 400 genes have been implicated in GDD. Here, we report a novel homozygous splice acceptor variant, NC_000001.
View Article and Find Full Text PDFClinical and Genetic Functional Validation of a Novel Mutation Causing MEDNIK Syndrome.
Int J Genomics
August 2025
Department of Hematology, The Affiliated Children's Hospital of Kunming Medical University, Kunming Medical University, Kunming, China.
MEDNIK syndrome is a rare copper metabolism disorder caused by variants. Herein, we report the clinical and genetic characteristics of MEDNIK syndrome in two siblings. The clinical treatment process for MEDNIK syndrome and over 4 years of follow-up data were analysed in two siblings.
View Article and Find Full Text PDFIntrafamilial variability of phenotype in CACNA2D4-associated retinal dysfunction: more or less.
Doc Ophthalmol
August 2025
CHU Lille, Service d'Exploration de la Vision et de Neuro-Ophtalmologie, Hôpital Salengro, 59037, Lille, France.
Introduction: Retinal dysfunction associated with CACNA2D4 gene defects is a rare disorder of photoreceptor to bipolar cell signaling. We report two affected siblings presenting a surprising disparity of retinal involvement.
Materials And Methods: Patients underwent complete ocular examination, multimodal fundus imaging, and full-field electroretinography (ffERG).
Missense Variant in Dogs with Cerebellar Ataxia.
Genes (Basel)
August 2025
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.
Hereditary ataxias are a highly heterogenous group of diseases characterized by loss of coordination. In this study, we investigated a family of random-bred dogs, in which two siblings were affected by a slowly progressive ataxia. They presented with clinical signs of progressive cerebellar ataxia, hypermetria, and absent menace response.
View Article and Find Full Text PDF