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Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia
Genetic investigation of inherited skin disorders has informed understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease characterized by transient figurate patches of erythema, localized or gener...
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| Izdano u: | J Invest Dermatol |
|---|---|
| Glavni autori: | , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2014
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4430428/ https://ncbi.nlm.nih.gov/pubmed/25398053 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2014.485 |
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