Associated Papers
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
A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia.
Wittlieb-Weber CA et al.
Heartrhythm Case Reports, 2016
The potency of the fs260 connexin43 mutant to impair keratinocyte differentiation is distinct from other disease-linked connexin43 mutants.
Churko JM et al.
The Biochemical Journal, 2010
[Familial sinuatrial and atrioventricular arrhythmia causing an emergency case (author's transl)].
Lehmann H et al.
Medizinische Klinik, 1977
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