Bilateral Symmetrical Nodules on the Thumbs in a Female Patient: A Quiz von Lee, TungChun, Huang, YiKe, Wang, Juan, Lin, Zhimiao

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Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 von Yang, Fang, Jiang, Xingyuan, Zhu, Yuhao, Lee, Mingyang, Xu, Zhengren, Zhang, Jianglin, Li, Qian, Lin, Mao-ying, Wang, Huijun, Lin, Zhimiao

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Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome von Lin, Zhimiao, Chen, Quan, Lee, Mingyang, Cao, Xu, Zhang, Jie, Ma, Donglai, Chen, Long, Hu, Xiaoping, Wang, Huijun, Wang, Xiaowen, Zhang, Peng, Liu, Xuanzhu, Guan, Liping, Tang, Yiquan, Yang, Haizhen, Tu, Ping, Bu, Dingfang, Zhu, Xuejun, Wang, KeWei, Li, Ruoyu, Yang, Yong

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Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility von Lin, Zhimiao, Li, Shuo, Feng, Cheng, Yang, Shang, Wang, Huijun, Ma, Danhui, Zhang, Jing, Gou, Mengting, Bu, Dingfang, Zhang, Tengjiang, Kong, Xiaohui, Wang, Xintong, Sarig, Ofer, Ren, Yali, Dai, Lanlan, Liu, Hankui, Zhang, Jianguo, Li, Fei, Hu, Yongyan, Padalon-Brauch, Gilly, Vodo, Dan, Zhou, Feng, Chen, Ting, Deng, Haiteng, Sprecher, Eli, Yang, Yong, Tan, Xu

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Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia von Wang, Huijun, Xu, Zhe, Lee, Bo Hyun, Vu, Simon, Hu, Linghan, Lee, Mingyang, Bu, Dingfang, Cao, Xu, Hwang, Samuel, Yang, Yong, Zheng, Jie, Lin, Zhimiao

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Incompletely penetrant TRPM4‐associated progressive symmetric erythrokeratodermia responses to methotrexate von Jiang, Xingyuan, Wang, Zhaoyang, Lin, Zhimiao, Xu, Zigang, Wang, Huijun

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Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome von Wang, Huijun, Humbatova, Aytaj, Liu, Yuanxiang, Qin, Wen, Lee, Mingyang, Cesarato, Nicole, Kortüm, Fanny, Kumar, Sheetal, Romano, Maria Teresa, Dai, Shangzhi, Mo, Ran, Sivalingam, Sugirthan, Motameny, Susanne, Wu, Yuan, Wang, Xiaopeng, Niu, Xinwu, Geng, Songmei, Bornholdt, Dorothea, Kroisel, Peter M., Tadini, Gianluca, Walter, Scott D., Hauck, Fabian, Girisha, Katta M., Calza, Anne-Marie, Bottani, Armand, Altmüller, Janine, Buness, Andreas, Yang, Shuxia, Sun, Xiujuan, Ma, Lin, Kutsche, Kerstin, Grzeschik, Karl-Heinz, Betz, Regina C., Lin, Zhimiao

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Amyloidosis cutis dyschromica cases caused by GPNMB mutations with different inheritance patterns von Qin, Wen, Wang, Huijun, Zhong, Weilong, Bai, Juan, Qiao, Jianjun, Lin, Zhimiao

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Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations von Zhang, Bin, He, Rui, Xu, Zigang, Sun, Yujuan, Wei, Li, Li, Li, Liu, Yuanxiang, Guo, Wu, Song, Li, Wang, Huijun, Lin, Zhimiao, Ma, Lin

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Novel pathogenic variants in the RECQL4 gene causing Rothmund‐Thomson syndrome in three Chinese patients von Zhang, Yingzi, Qin, Wen, Wang, Huijun, Lin, Zhimiao, Tang, Zhanli, Xu, Zhe

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Epidermolysis Bullosa Pruriginosa Treated With Upadacitinib von Zhang, Zeqiao, Lin, Zhimiao

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Generalized Skin Scaling in a Young Girl: A Quiz von Mo, Ran, Wang, Huijun, Lin, Zhimiao

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Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization von Pan, Yuxue, Feng, Cheng, Wang, Huijun, Lee, Mingyang, Tang, Zhanli, Lin, Zhimiao

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TRPV1 gain-of-function mutation impairs pain and itch sensations in mice von Duo, Lina, Hu, Linghan, Tian, Naxi, Cheng, Gen, Wang, Huijun, Lin, Zhimiao, Wang, Yun, Yang, Yong

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CARD14 Missense Variant Underlying CARD14-Associated Papulosquamous Eruption with Beneficial Response to Secukinumab von Dai, Shangzhi, Zhang, Shanshan, Wang, Chenliang, Lin, Xin, Lin, Zhimiao

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ACTB Mutations Analysis and Genotype-Phenotype Correlation in Becker's Nevus von Dai, Shangzhi, Wang, Huijun, Lin, Zhimiao

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Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway von Yan, Wei, Zhang, Bin, Wang, Huijun, Mo, Ran, Jiang, Xingyuan, Qin, Wen, Ma, Lin, Lin, Zhimiao

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Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome von Wang, Huijun, Cao, Xu, Lin, Zhimiao, Lee, Mingyang, Jia, Xinying, Ren, Yali, Dai, Lanlan, Guan, Liping, Zhang, Jianguo, Lin, Xuan, Zhang, Jie, Chen, Quan, Feng, Cheng, Zhou, Eray Yihui, Yin, Jinghua, Xu, Guiwen, Yang, Yong

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Identification of the underlying gene for Flegel disease: another 'two-hit' genodermatosis? von Wang, Huijun, Lin, Zhimiao

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Investigation of Nagashima‐type palmoplantar keratoderma in China: A cross‐sectional study of 234 patients von Liu, Juan, Chen, Zhiming, Hu, Linghan, Song, Zhongya, Mo, Ran, Tsang, Lemuel Shui‐Lun, Liu, Yihe, Huang, Xin, Gong, Zhuoqing, Lin, Zhimiao, Yang, Yong

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