Article
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Human genetics - 1 Apr 2020
Arnaud Pauline, Racine Caroline, Hanna Nadine, Thevenon Julien, Alessandri Jean-Luc, Bonneau Dominique, Clayton-Smith Jill, Coubes Christine, Delobel Bruno, Dupuis-Girod Sophie, Gouya Laurent, Odent Sylvie, Carmignac Virginie, Thauvin-Robinet Christel, Le Goff Carine, Jondeau Guillaume, Boileau Catherine, Faivre Laurence
Abstract excerpt
SKI pathogenic variations are associated with Shprintzen-Goldberg Syndrome (SGS), a rare systemic connective tissue disorder characterized by craniofacial, skeletal and cardiovascular features. So far, the clinical description, including intellectual disability, has been relatively homogeneous, and the known pathogenic variations were located in two different hotspots of the SKI gene. In the course of diagnosing...
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