Article
SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.
American journal of medical genetics. Part A - 1 May 2025
Spineli-Silva Samira, Pontes Larissa Bretanha, de Leeuw Nicole, Correia-Costa Gabriela Roldão, de Wallau Melissa Bittencourt, Versiani Beatriz Ribeiro, Mazzeu Juliana Forte, Boy Raquel, Gil-da-Silva-Lopes Vera Lúcia, Vieira Társis Paiva
Abstract excerpt
Myhre syndrome is a rare disorder caused by pathogenic gain-of-function variants in the SMAD4 gene. Most of the patients have had de novo variants. There are several instances of autosomal dominant inheritance, and penetrance appears to be complete. We describe seven Brazilian patients, three of whom are siblings carrying the recurrent c.1486C>T p.(Arg496Cys) variant in SMAD4 inherited from the father. The other...
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