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

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 mutations in...

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Detalles Bibliográficos
Autores principales: Serra, Gregorio, Memo, Luigi, Cavicchioli, Paola, Cutrone, Mario, Giuffrè, Mario, La Torre, Maria Laura, Schierz, Ingrid Anne Mandy, Corsello, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9375412/
https://www.ncbi.nlm.nih.gov/pubmed/35964051
http://dx.doi.org/10.1186/s13052-022-01336-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9375412/
https://www.ncbi.nlm.nih.gov/pubmed/35964051
http://dx.doi.org/10.1186/s13052-022-01336-0

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