A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome

Netherton syndrome (NS, OMIM #256500) is a rare autosomal recessive disease characterized by a triad of congenital ichthyosiform erythroderma (CIE) or ichthyosis linearis circumflexa (ILC), trichorrhexis invaginata (TI), and atopic predisposition. The disease is caused by a mutation in the SPINK5 ge...

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Detalles Bibliográficos
Autores principales: Wang, Yu, Song, Hanqing, Yu, Lingling, Wu, Nan, Zheng, Xiaodong, Liang, Bo, Wang, Peiguang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9500337/
https://www.ncbi.nlm.nih.gov/pubmed/36159989
http://dx.doi.org/10.3389/fgene.2022.943264

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9500337/
https://www.ncbi.nlm.nih.gov/pubmed/36159989
http://dx.doi.org/10.3389/fgene.2022.943264

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