The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome

Our study provides valuable insights into the genotype-phenotype correlation in Netherton syndrome, enhancing our understanding of the disease and potentially informing the development of future therapeutic approaches.

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Publication Details

Journal
Frontiers in Genetics
Published
2025-01-27
DOI
https://doi.org/10.3389/fgene.2025.1475054
Citations
2
Primary Topic
Skin and Cellular Biology Research
Type
article
Field-Weighted Citation Impact
2.30

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article

The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome

Jinglin Xiong, Min Xu, Jiawen Yin, Yujie Shi et al.
2 citations
Frontiers in Genetics
Skin and Cellular Biology Research
2.30
article

The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome

Jinglin Xiong, Min Xu, Jiawen Yin, Yujie Shi, Xianzhong Zhu, Liang Wang, Li Lin, Qing Qi, Wenlin Yang
article en
2 citations

Abstract

Our study provides valuable insights into the genotype-phenotype correlation in Netherton syndrome, enhancing our understanding of the disease and potentially informing the development of future therapeutic approaches.

Frontiers in GeneticsVol. 16
Sun Yat-sen University (CN), Second Affiliated Hospital of Guangzhou Medical University (CN), The First Affiliated Hospital, Sun Yat-sen University (CN), Guangzhou Medical University (CN)
National Natural Science Foundation of China, China Postdoctoral Science Foundation
Good health and well-being
Openalex Percentile: Top 16%
Skin and Cellular Biology Research
2.30
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The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome — Jinglin Xiong, Min Xu, et al. · Frontiers in Genetics (2025) | TGRS Research Map | TGRS