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Results 1 - 4 of 4 for Erythrokeratodermia variabilis et progressiva 1
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  1. Erythrokeratodermia variabilis et progressiva 
    ... 1 National Organization for Rare Disorders (NORD) ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2; EKVP2 ERYTHROKERATODERMIA VARIABILIS ET ...
    https://medlineplus.gov/...hrokeratodermia-variabilis-et-progressiva - Genetics
  2. GJB3 gene 
    ... p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis. Br J Dermatol. 2015 Jul;173(1):309-11. doi: 10.1111/bjd.13641. Epub ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  3. GJB4 gene 
    ... Itoh M, Nakagawa H. Japanese sporadic case of erythrokeratodermia variabilis caused by the connexin-30.3 (GJB4) mutation: Is Glycine 12 a mutational hotspot in the connexin family? J Dermatol. 2016 Jul;43(7):830-1. doi: 10.1111/1346-8138.13277. Epub 2016 ...
    https://medlineplus.gov/genetics/gene/gjb4 - Genetics
  4. GJA1 gene 
    ... CONGENITAL ALOPECIA 1; PPKCA1 GAP JUNCTION PROTEIN, ALPHA-1; GJA1 SYNDACTYLY, TYPE III; SDTY3 ... in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. J ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics