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Quoted phrase not found in phrase index: "Erythrokeratodermia variabilis et progressiva 6"
Page 1
Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.
Tang C, Chen X, Chi J, Yang D, Liu S, Liu M, Pan Q, Fan J, Wang D, Zhang Z. Tang C, et al. Hum Mol Genet. 2015 Nov 1;24(21):6054-65. doi: 10.1093/hmg/ddv317. Epub 2015 Aug 6. Hum Mol Genet. 2015. PMID: 26251042
Mutations in connexin-31 (Cx31) are associated with multiple human diseases, including familial erythrokeratodermia variabilis (EKV). The pathogenic mechanism of EKV-associated Cx31 mutants remains largely elusive. ...
Mutations in connexin-31 (Cx31) are associated with multiple human diseases, including familial erythrokeratodermia variabilis …
A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.
Zaki TD, Yoo KY, Kassardjian M, Choate KA. Zaki TD, et al. Pediatr Dermatol. 2018 Nov;35(6):e414-e415. doi: 10.1111/pde.13643. Epub 2018 Aug 28. Pediatr Dermatol. 2018. PMID: 30152556 Free PMC article.
We present the case of a 5-year-old girl who developed intermittent eruptions of pink, round, scaly, migratory plaques with palmoplantar keratoderma and was originally diagnosed with erythrokeratodermia variabilis et progressiva (EKVP). Genetic analysi …
We present the case of a 5-year-old girl who developed intermittent eruptions of pink, round, scaly, migratory plaques with palmoplantar ker …
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K. Ozaki K, et al. JAMA Neurol. 2015 Jul;72(7):797-805. doi: 10.1001/jamaneurol.2015.0610. JAMA Neurol. 2015. PMID: 26010696
Although a missense mutation in ELOVL4 (c.504G>C, p.L168F) was recently reported to be associated with SCA with erythrokeratodermia variabilis (SCA34) in a French-Canadian family, signs of erythrokeratodermia variabilis were absent in our families. …
Although a missense mutation in ELOVL4 (c.504G>C, p.L168F) was recently reported to be associated with SCA with erythrokeratodermia …