Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Cl...
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis
About this item
Full title
Author / Creator
Fioretti, Tiziana , Martora, Fabrizio , De Maggio, Ilaria , Ambrosio, Adelaide , Piscopo, Carmelo , Vallone, Sabrina , Amato, Felice , Passaro, Diego , Acquaviva, Fabio , Gaudiello, Francesca , Di Girolamo, Daniela , Maiolo, Valeria , Zarrilli, Federica , Esposito, Speranza , Vitiello, Giuseppina , Auricchio, Luigi , Sammarco, Elena , Brasi, Daniele De , Petillo, Roberta , Gambale, Antonella , Cattaneo, Fabio , Ammendola, Rosario , Nappa, Paola and Esposito, Gabriella
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the identification of the genetic defect allows the correct classification. In the attempt to molecular...
Alternative Titles
Full title
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis
Authors, Artists and Contributors
Author / Creator
Martora, Fabrizio
De Maggio, Ilaria
Ambrosio, Adelaide
Piscopo, Carmelo
Vallone, Sabrina
Amato, Felice
Passaro, Diego
Acquaviva, Fabio
Gaudiello, Francesca
Di Girolamo, Daniela
Maiolo, Valeria
Zarrilli, Federica
Esposito, Speranza
Vitiello, Giuseppina
Auricchio, Luigi
Sammarco, Elena
Brasi, Daniele De
Petillo, Roberta
Gambale, Antonella
Cattaneo, Fabio
Ammendola, Rosario
Nappa, Paola
Esposito, Gabriella
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_cf770a14d73143508ed72d9485ac9251
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_cf770a14d73143508ed72d9485ac9251
Other Identifiers
ISSN
2227-9059
E-ISSN
2227-9059
DOI
10.3390/biomedicines12051112
