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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| Päätekijät: | , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Frontiers Media S.A.
2022-09-01
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| Sarja: | Frontiers in Genetics |
| Aiheet: | |
| Linkit: | https://www.frontiersin.org/articles/10.3389/fgene.2022.943264/full |
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