Oculodentodigital Dysplasia Latest Advances
Find the Latest Research About Oculodentodigital Dysplasia
Last Updated: 02/24/2026
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Found 196 publications
A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia.
Journal: Ophthalmic genetics
Published: January 20, 2025
Novel Mutation Causing Oculodentodigital Dysplasia: A Rare Cause of Spastic Paraparesis Not to Miss.
Novel Mutation Causing Oculodentodigital Dysplasia: A Rare Cause of Spastic Paraparesis Not to Miss.
Journal: Movement disorders clinical practice
Published: January 09, 2025
Calcium Regulation of Connexin Hemichannels.
Journal: International journal of molecular sciences
Published: May 01, 2024
Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient.
Journal: Annals of Indian Academy of Neurology
Published: March 06, 2024
Deep neurological phenotyping in oculo-dento-digital syndrome.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: December 05, 2023
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.
Journal: Human genome variation
Published: October 19, 2023
Role of Cx43 on the Bone Cell Generation, Function, and Survival.
Journal: Bioelectricity
Published: September 25, 2023
Inherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43.
Journal: The Biochemical journal
Published: March 28, 2023
Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.
Journal: Oral surgery, oral medicine, oral pathology and oral radiology
Published: April 24, 2022
Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults.
Journal: Neurology
Published: February 22, 2022
Craniofacial and Neurological Phenotype in a Case of Oculodentodigital Syndrome.
Journal: Advances in experimental medicine and biology
Published: January 13, 2022
Absence of Connexin 43 Results in Smaller Retinas and Arrested, Depolarized Retinal Progenitor Cells in Human Retinal Organoids.
Journal: Stem cells (Dayton, Ohio)
Published: December 06, 2021
Last Updated: 02/24/2026