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Netherton's Syndrome: A Case of Two Male Siblings Diagnosed in Adulthood
Netherton's syndrome (NS) is a rare autosomal recessive genetic disease caused by a germline mutation in the SPINK5 gene. It is most commonly diagnosed in neonates due to the presence of congenital ichthyosiform erythroderma. Affected individuals will typically also develop a hair shaft abnorma...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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S. Karger AG
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7184789/ https://www.ncbi.nlm.nih.gov/pubmed/32355487 http://dx.doi.org/10.1159/000507359 |