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Chaolan Pan
Chaolan Pan
Shanghai Jiao Tong University
Mutation
Compound heterozygosity
Medicine
Genetics
Dominance (genetics)
2
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Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large-sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin.
2021
Molecular Genetics & Genomic Medicine
Zhen Zhang
Chaolan Pan
Ruoqu Wei
Huaguo Li
Yijun Yang
Jiawen Chen
Ming Li
Zhirong Yao
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Deep-intronic and frameshift DSG1 variants associated with atypical severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome in a Chinese family.
2021
European Journal of Dermatology
Chaolan Pan
Ruhong Cheng
Yue Li
Mingzhu Zhao
Fuying Chen
Jianying Liang
Xia Yu
Xiaoxiao Wang
Hongmei Li
Zhirong Yao
Yin Zhuang
Ming Li
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