• <em>GJA1</em> Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination
• A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma
• A case of angle-closure glaucoma, cataract, nanophthalmos and spherophakia in oculo-dento-digital syndrome
• A case of familial syndactyly associated with eye and dental abnormalities
• A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia
• A Highlighted Case for Emphasizing on Clinical Diagnosis for Rare Syndrome in Third World
• A hypomyelinating leukodystrophy with calcification: oculodentodigital dysplasia
• A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia
• A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel
• A rare dysplasia: the oculo-dento-digital syndrome
• A rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema
• Absence of Connexin 43 Results in Smaller Retinas and Arrested, Depolarized Retinal Progenitor Cells in Human Retinal Organoids
• An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
• Astrocyte-Oligodendrocyte-Microglia Crosstalk in Astrocytopathies
• Astrocytic Connexin43 Channels as Candidate Targets in Epilepsy Treatment
• 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
• Cardiac arrhythmia and death of teenager linked to rare genetic disorder diagnosed at autopsy
• Case of oculo-dento-digital dysplasia
• Case of oculo-dento-digital syndrome
• Case report: imaging and treatment of ophthalmic manifestations in oculodentodigital dysplasia
• Cataract surgical problem: February consultation #1
• Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family
• Clinical manifestations of oculodentodigital dysplasia
• Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome
• Connexin 43 contributes to phenotypic robustness of the mouse skull
• Connexin 43-Mediated Gap Junction Communication Regulates Ameloblast Differentiation <em>via</em> ERK1/2 Phosphorylation
• Connexin43 is Dispensable for Early Stage Human Mesenchymal Stem Cell Adipogenic Differentiation But is Protective against Cell Senescence
• Connexin43 Mutant Patient-Derived Induced Pluripotent Stem Cells Exhibit Altered Differentiation Potential
• Connexins and Disease
• Connexins in skeletal muscle development and disease
• Craniofacial and Neurological Phenotype in a Case of Oculodentodigital Syndrome
• Deep neurological phenotyping in oculo-dento-digital syndrome
• Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants
• Digital and dental malformation and short stature in a patient with neurological problems: a variant of the oculodentodigital dysplasia syndrome or a new syndrome?
• Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
• Effects of Reduced Connexin43 Function on Mandibular Morphology and Osteogenesis in Mutant Mouse Models of Oculodentodigital Dysplasia
• Effects of reduced connexin43 function on skull development in the Cx43^I130T/+ mutant mouse that models oculodentodigital dysplasia
• Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia
• Esco2 regulates cx43 expression during skeletal regeneration in the zebrafish fin
• EYA4, a novel vertebrate gene related to Drosophila eyes absent
• February consultation #2
• February consultation #3
• February consultation #4
• February consultation #5
• Generalised hypomineralisation of enamel in oculodentodigital dysplasia: comprehensive dental management of a case
• Genetic study of a pedigree affected with oculodentodigital dysplasia
• Hair dysplasia in oculo-dento-digital syndrome. Apropos of a mother-daughter case
• Heterozygous <em>GJA1</em> variants with ocular phenotype: Missense in domain but truncation out of domain
• Hot cross bun sign and prominent cerebellar peduncle involvement in a patient with oculodentodigital dysplasia
• Hypomyelinating leukodystrophies in adults: Clinical and genetic features
• Inherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43
• Interrogation of Carboxy-Terminus Localized <em>GJA1</em> Variants Associated with Erythrokeratodermia Variabilis et Progressiva
• Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene
• Juvenile open angle glaucoma with microcornea in oculo-dento-digital dysplasia (Meyer-Schwickerath-Weyers syndrome)
• Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients
• Maxillo-facial radiology case 118. Oculodentodigital dysplasia
• Meyer-Schwickerath-Weyers syndrome (oculo-dento-digital syndrome)
• Mice harbouring an oculodentodigital dysplasia-linked Cx43 G60S mutation have severe hearing loss
• Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families
• Mutations in cardiovascular connexin genes
• Myogenic bladder defects in mouse models of human oculodentodigital dysplasia
• Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
• Neurological presentations of oculodentodigital dysplasia
• Novel <em>GJA1/Cx43</em> Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms
• Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms
• Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia
• Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review
• Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations
• Oculo-dento-digital dysplasia (OMIM *164200). Full manifestation of the syndrome in a 9.5 year-old girl and type III syndactyly in the father
• OCULO-DENTO-DIGITAL DYSPLASIA IN A TUNISIAN FAMILY WITH A NOVEL GJA1 MUTATION
• Oculo-dento-digital Dysplasia Presenting as Spastic Paraparesis Which Was Successfully Treated by Intrathecal Baclofen Therapy
• Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging
• Oculo-dento-digital syndrome
• Oculo-dento-digital syndrome (Gorlin's syndrome): clinical and genetical report of a new family
• Oculo-dento-digital syndrome. (Oculo-dento-digital dysplasia)
• Oculodentodigital dysplasia
• Oculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis
• Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review
• Oculodentodigital Dysplasia with a Novel Mutation in <em>GJA1</em> Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review
• Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene
• Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases
• Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults
• Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
• Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43
• Prognostic impact of reduced connexin43 expression and gap junction coupling of neoplastic stromal cells in giant cell tumor of bone
• Relative anterior microphthalmos in oculodentodigital dysplasia
• Role of connexins and pannexins during ontogeny, regeneration, and pathologies of bone
• Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia
• Syndrome of oculo-dento-digital dysplasia
• Syndromic and non-syndromic disease-linked Cx43 mutations
• Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management
• The oculo-dento-digital dysplasia syndrome
• The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family
• Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum
• Two new cases of the oculo-dento-digital syndrome (author's transl)
• Two new cases of the oculo-dento-digital syndrome (author's transl)
• Two novel GJA1 variants in oculodentodigital dysplasia
• Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome
• Vismodegib for basal cell carcinoma: targeted therapy in case of locally advanced or metastasised disease