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

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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Bibliographic Details
Main Authors: Tiziana Fioretti, Luigi Auricchio, Angelo Piccirillo, Giuseppina Vitiello, Adelaide Ambrosio, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:Diagnostics
Subjects:
congenital ichthyosiform erythroderma
genotype-phenotype correlation
large deletion
nonsyndromic autosomal recessive ichthyosis
next generation sequencing
Online Access:https://www.mdpi.com/2075-4418/10/12/995

Internet

https://www.mdpi.com/2075-4418/10/12/995

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