Article
A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.
Acta clinica Belgica - 1 Feb 2022
González-Tarancón R, Salvador-Rupérez E, Miramar Gallart M D, Barroso E, Díez García-Prieto I, Pérez Delgado R, López Pisón J, García Jiménez M C
Abstract excerpt
BACKGROUND: Weiss-Kruszka syndrome (WSKA) is a rare disorder caused by mutations in the ZNF462 gene or deletion of 9p31.2 chromosome region, involving ZNF462. The prevalence of WSKA is unknown as only 24 affected individuals have been described. This syndrome should be suspected in individuals presenting mild global developmental delay and common craniofacial abnormalities. CASE PRESENTATION: We presented a case...
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