Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss-Kruszka syndrome
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...
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BMC,
2024-11-01T00:00:00Z.
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