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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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Principais autores: Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz, Giovanni Corsello
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2022-08-01
coleção:Italian Journal of Pediatrics
Assuntos:
Congenital ichthyosis
Target NGS
Harlequin ichtyosis
Epidermolytic ichtyosis
Autosomal recessive ichtyosis with hypotrichosis
Case report
Acesso em linha:https://doi.org/10.1186/s13052-022-01336-0
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