Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients

Autosomal recessive congenital ichthyoses (ARCI) are rare genodermatosis disorders characterized by phenotypic and genetic heterogeneity. At least fourteen genes so far have been related to ARCI; however, despite genetic heterogeneity, phenotypes associated with mutation of different ARCI genes may...

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Detalles Bibliográficos
Autores principales: Fioretti, Tiziana, Auricchio, Luigi, Piccirillo, Angelo, Vitiello, Giuseppina, Ambrosio, Adelaide, Cattaneo, Fabio, Ammendola, Rosario, Esposito, Gabriella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7760754/
https://www.ncbi.nlm.nih.gov/pubmed/33255364
http://dx.doi.org/10.3390/diagnostics10120995

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7760754/
https://www.ncbi.nlm.nih.gov/pubmed/33255364
http://dx.doi.org/10.3390/diagnostics10120995

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