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The Journal of Dermatology|April 11, 2026
Mutation Analysis in Ten Cases With PNPLA1-Nonsyndromic Epidermal Differentiation Disorder: Evidence of a Founder EffectYunran Peng, Yang Guan, Kunlun Lv, et al.Biomedicines|December 24, 2021
ACTB Mutations Analysis and Genotype-Phenotype Correlation in Becker's NevusShangzhi Dai, Huijun Wang, Zhimiao LinBMC Infectious Diseases|March 21, 2024
Improving dengue fever predictions in Taiwan based on feature selection and random forestsChao-Yang Kuo, Wei-Wen Yang, Emily Chia-Yu SuClinical Genetics|November 13, 2022
Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosisXuan Wang, Jun Liu, Junyi Chen, et al.The Journal of Clinical Investigation|February 5, 2026
Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transportZeqiao Zhang, Shimiao Huang, Adam Jackson, et al.The British Journal of Dermatology|March 15, 2024
Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformationXingyuan Jiang, Chao Yang, Zhaoyang Wang, et al.JID Innovations : Skin Science From Molecules to Population Health|January 26, 2023
CARD14 Missense Variant Underlying CARD14-Associated Papulosquamous Eruption with Beneficial Response to SecukinumabShangzhi Dai, Shanshan Zhang, Chenliang Wang, et al.Journal of Dermatological Science|March 2, 2020
Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localizationYuxue Pan, Cheng Feng, Huijun Wang, et al.International Journal of Dermatology|September 12, 2014
Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopeciaJinghua Yin, Yali Ren, Zhimiao Lin, et al.Pediatric Dermatology|July 15, 2020
Generalized bullae in a young girl with KRT6A-related pachyonychia congenitaJie Liu, Weilong Zhong, Bo Yu, et al.Pageof 731