Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss-Kruszka syndrome

• Váldodahkkit: Chunxiao Han (Dahkki), Changshui Chen (Dahkki), Yuxin Zhang (Dahkki), Haibo Li (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2024-11-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Abstract Background Weiss-Kruszka syndrome (WSKA) is a rare autosomal dominant syndrome characterized by multiple congenital anomalies caused by variants in the zinc finger protein 462 gene (ZNF462). About 40 cases of Weiss-Kruszka syndrome have been reported worldwide, and the aim of this study was...