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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Detalles Bibliográficos
Autores principales: Kutkowska-Kaźmierczak, Anna, Niepokój, Katarzyna, Wertheim-Tysarowska, Katarzyna, Giza, Aleksandra, Mordasewicz-Goliszewska, Maria, Bal, Jerzy, Obersztyn, Ewa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Human Genetics • Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543413/
https://www.ncbi.nlm.nih.gov/pubmed/25575739
http://dx.doi.org/10.1007/s13353-014-0266-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543413/
https://www.ncbi.nlm.nih.gov/pubmed/25575739
http://dx.doi.org/10.1007/s13353-014-0266-1

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