Associated Papers
Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
Vermeer MCSC et al.
International Journal of Molecular Sciences, 2022
Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.
Kumar V et al.
Case Reports in Ophthalmological Medicine, 2020
32318302 (PubMed )
Supplement: 6535974.f1.xlsx › Sheet1
Connexins in epidermal homeostasis and skin disease.
Scott CA et al.
Biochimica Et Biophysica Acta, 2012
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas WA et al.
Human Mutation, 2009
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma.
van Steensel MA et al.
American Journal of Medical Genetics. Part A, 2005
Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.
Alao MJ et al.
European Journal of Medical Genetics, 0
Select a paper to view details