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Quoted phrase not found in phrase index: "Erythrokeratodermia variabilis et progressiva 6"
Page 1
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ. Richard G, et al. Nat Genet. 1998 Dec;20(4):366-9. doi: 10.1038/3840. Nat Genet. 1998. PMID: 9843209
Erythrokeratodermia variabilis (EKV, OMIM 133200) is an autosomal dominant genodermatosis with considerable intra- and interfamilial variability. ...We detected heterozygous missense mutations in GJB3 in four EKV families leading to substitution of a conserved glyci …
Erythrokeratodermia variabilis (EKV, OMIM 133200) is an autosomal dominant genodermatosis with considerable intra- and interfa …
Reticular erythrokeratoderma: a new disorder of cornification.
Itin PH, Moschopulos M, Richard G. Itin PH, et al. Am J Med Genet A. 2003 Jul 15;120A(2):237-40. doi: 10.1002/ajmg.a.20036. Am J Med Genet A. 2003. PMID: 12833406
Histopathologic and ultrastructural findings were nonspecific and there was no evidence for metabolic disorders. The partial clinical overlap with erythrokeratodermia variabilis prompted us to screen several connexin genes but no pathogenic mutations were identified …
Histopathologic and ultrastructural findings were nonspecific and there was no evidence for metabolic disorders. The partial clinical overla …
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
Richard G, Brown N, Smith LE, Terrinoni A, Melino G, Mackie RM, Bale SJ, Uitto J. Richard G, et al. Hum Genet. 2000 Mar;106(3):321-9. doi: 10.1007/s004390051045. Hum Genet. 2000. PMID: 10798362
Our recent molecular studies implicating Cx defects in inherited skin disorders emphasize the critical role of this signaling pathway in epidermal differentiation. Erythrokeratodermia variabilis (EKV) is an autosomal dominant genodermatosis with a striking phenotype …
Our recent molecular studies implicating Cx defects in inherited skin disorders emphasize the critical role of this signaling pathway in epi …
Erythrokeratodermia variabilis in a patient followed through the first year of life.
Bond MJ, Donelan P, Fenske N. Bond MJ, et al. Cutis. 1982 Nov;30(5):633-7. Cutis. 1982. PMID: 7172743
Erythrokeratodermia variabilis (EKV) is a well-described entity consisting of transient erythematous areas and fixed hyperkeratotic plaques. ...
Erythrokeratodermia variabilis (EKV) is a well-described entity consisting of transient erythematous areas and fixed hyperkera …