Mal de Meleda with homozygous mutation p.G86R in SLURP‐1
Author:
Affiliation:
1. Institute of Dermatology Chinese Academy of Medical Sciences and Peking Union Medical College Nanjing Jiangsu China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Dermatology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijd.14807
Reference10 articles.
1. Mal de Meleda: A Focused Review
2. Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features
3. Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families
4. Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates
5. Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families
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1. A novel mutation in SLURP1 in patients with Mal de Meleda from Turkey;International Journal of Dermatology;2024-04-22
2. Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda;BMC Medical Genomics;2023-07-01
3. Case Report: Challenges in the Diagnosis of a Case of Mal de Meleda and a Therapeutic Attempt of Ixekizumab and Adalimumab;Frontiers in Medicine;2022-03-10
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