Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of skin disorders. Several mutant genes have been identified in ARCI, but the association between genotype and phenotype is poorly understood. METHODS: To investigate genotype–phenotype correlations in ARCI, we sel...

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Autori principali: Dahlqvist, J, Klar, J, Hausser, I, Anton‐Lamprecht, I, Pigg, M Hellström, Gedde‐Dahl, T, Gånemo, A, Vahlquist, A, Dahl, N
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2007
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597970/
https://ncbi.nlm.nih.gov/pubmed/17557927
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.050542
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