The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome

The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome

ObjectiveNetherton syndrome (NS) is a rare hereditary dermatosis, and the correlation between genotype and phenotype in this disease warrants further investigation. This study aimed to explore the genotype-phenotype correlation in NS.MethodsWe collect cases from our clinic and relevant literature. A...

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Bibliographic Details
Main Authors: Min Xu, Yujie Shi, Li Lin, Liang Wang, Xianzhong Zhu, Jinglin Xiong, Jiawen Yin, Qing Qi, Wenlin Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Genetics
Subjects:
Netherton syndrome
SPINK5
genotype-phenotype correlation
LEKTI
domain
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1475054/full
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