Disease: Oculodentoosseous dysplasia dominant
- <em>GJA1</em> Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination
- An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
- Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature
- Calmodulin Directly Interacts with the Cx43 Carboxyl-Terminus and Cytoplasmic Loop Containing Three ODDD-Linked Mutants (M147T, R148Q, and T154A) that Retain α-Helical Structure, but Exhibit Loss-of-Function and Cellular Trafficking Defects
- Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family
- Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome
- Connexin43 Mutant Patient-Derived Induced Pluripotent Stem Cells Exhibit Altered Differentiation Potential
- Deep neurological phenotyping in oculo-dento-digital syndrome
- Heterozygous <em>GJA1</em> variants with ocular phenotype: Missense in domain but truncation out of domain
- Interrogation of Carboxy-Terminus Localized <em>GJA1</em> Variants Associated with Erythrokeratodermia Variabilis et Progressiva
- Neurological presentations of oculodentodigital dysplasia
- Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia
- OCULO-DENTO-DIGITAL DYSPLASIA IN A TUNISIAN FAMILY WITH A NOVEL GJA1 MUTATION
- Oculodento-osseous dysplasia: heterogeneity or variable expression?
- Oculodentodigital dysplasia
- Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review
- Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation
- Ophthalmological complications in the sclerosing bone dysplasias
- Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia
- Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia