Erythrokeratodermia variabilis
Definition:
References:
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[1]. G Richard, et al. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet. 1998 Dec;20(4):366-9. [Content Brief]
[2]. Gabriele Richard, et al. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol. 2003 Apr;120(4):601-9. [Content Brief]
[3]. Huijun Wang, et al. Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia. J Invest Dermatol. 2019 May;139(5):1089-1097. [Content Brief]
[4]. J D Hendrix Jr, et al. Erythrokeratodermia variabilis present at birth: case report and review of the literature. Pediatr Dermatol. 1995 Dec;12(4):351-4. [Content Brief]
[5]. Khadim Shah, et al. Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. J Med Genet. 2017 Mar;54(3):186-189. [Content Brief]
[6]. Lynn M Boyden, et al. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. J Invest Dermatol. 2015 Jun;135(6):1540-1547. [Content Brief]
[7]. Lynn M Boyden, et al. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. Am J Hum Genet. 2017 Jun 1;100(6):978-984. [Content Brief]
[8]. Sabine Duchatelet, et al. Mutations in PERP Cause Dominant and Recessive Keratoderma. J Invest Dermatol. 2019 Feb;139(2):380-390. [Content Brief]
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