Associated Papers
Early-stage keratoconus in a case of oculodentodigital dysplasia.
Paredes-Hernández M et al.
Archivos De La Sociedad Espanola De Oftalmologia, 2026
Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.
Khan IU et al.
Clinical Genetics, 2025
Inherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43.
Li T et al.
The Biochemical Journal, 2023
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf
Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant.
Kobayashi H et al.
American Journal of Medical Genetics. Part A, 2020
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
Advances in molecular genetics for pulmonary atresia.
Gao M et al.
Cardiology in the Young, 2017
Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
Izumi K et al.
American Journal of Medical Genetics. Part A, 2013
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