Oculodentodigital Dysplasia Latest Advances

Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report.

Journal: Frontiers in genetics

Published: November 24, 2025

A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: November 20, 2025

Early-stage keratoconus in a case of oculodentodigital dysplasia.

Journal: Archivos de la Sociedad Espanola de Oftalmologia

Published: July 19, 2025

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.

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 Latest Advances

Find the Latest Research About Oculodentodigital Dysplasia

Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report.

Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report.

A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.

A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.

Early-stage keratoconus in a case of oculodentodigital dysplasia.

Early-stage keratoconus in a case of oculodentodigital dysplasia.

A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia.

A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia.

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.

Calcium Regulation of Connexin Hemichannels.

Calcium Regulation of Connexin Hemichannels.

Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient.

Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient.

Deep neurological phenotyping in oculo-dento-digital syndrome.

Deep neurological phenotyping in oculo-dento-digital syndrome.

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.

Role of Cx43 on the Bone Cell Generation, Function, and Survival.

Role of Cx43 on the Bone Cell Generation, Function, and Survival.

Inherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43.

Inherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43.

Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.

Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.