Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

Abstract Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutat...

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Bibliographic Details
Main Authors: Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz, Giovanni Corsello
Format: Article
Language:English
Published: BMC 2022-08-01
Series:Italian Journal of Pediatrics
Subjects:
Congenital ichthyosis
Target NGS
Harlequin ichtyosis
Epidermolytic ichtyosis
Autosomal recessive ichtyosis with hypotrichosis
Case report
Online Access:https://doi.org/10.1186/s13052-022-01336-0

Internet

https://doi.org/10.1186/s13052-022-01336-0

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