Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda

• Główni autorzy: Tian Wang (Autor), Zhuangli Tang (Autor), Tong Xiao (Autor), Junru Ren (Autor), Shuyao He (Autor), Yan Liu (Autor), Shengxiang Xiao (Autor), Xiaopeng Wang (Autor)
• Format: Książka
• Wydane: BMC, 2023-07-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract 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...