Article
Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda.
BMC medical genomics - 1 Jul 2023
Wang Tian, Tang Zhuangli, Xiao Tong, Ren Junru, He Shuyao, Liu Yan, Xiao Shengxiang, Wang Xiaopeng
Abstract excerpt
BACKGROUND: Mal de Meleda is an autosomal recessive palmoplantar keratoderma, with SLURP1 identified as the pathogenic gene responsible. Although over 20 mutations in SLURP1 have been reported, only the mutation c.256G > A (p.G87R) has been detected in Chinese patients. Here, we report a novel heterozygous SLURP1 mutation in a Chinese family. METHODS: We assessed the clinical manifestations of two Chinese...
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