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Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

Connexins belong to the family of gap junction proteins which enable direct cell-to-cell communication by forming channels in adjacent cells. Mutations in connexin genes cause a variety of human diseases and, in a few cases, result in skin disorders. There are significant differences in the clinical...

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Detalhes bibliográficos
Publicado no:J Appl Genet
Main Authors: Kutkowska-Kaźmierczak, Anna, Niepokój, Katarzyna, Wertheim-Tysarowska, Katarzyna, Giza, Aleksandra, Mordasewicz-Goliszewska, Maria, Bal, Jerzy, Obersztyn, Ewa
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4543413/
https://ncbi.nlm.nih.gov/pubmed/25575739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-014-0266-1
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