Article
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2022
Isidor Bertrand, Ebstein Frédéric, Hurst Anna, Vincent Marie, Bader Ingrid, Rudy Natasha L, Cogne Benjamin, Mayr Johannes, Brehm Anja, Bupp Caleb, Warren Kathryn, Bacino Carlos A, Gerard Amanda, Ranells Judith D, Metcalfe Kay A, van Bever Yolande, Jiang Yong-Hui, Mendelssohn Bryce A, Cope Heidi, Rosenfeld Jill A, Blackburn Patrick R, Goodenberger McKinsey L, Kearney Hutton M, Kennedy Joanna, Scurr Ingrid, Szczaluba Krzysztof, Ploski Rafal, de Saint Martin Anne, Alembik Yves, Piton Amélie, Bruel Ange-Line, Thauvin-Robinet Christel, Strong Alanna, Diderich Karin E M, Bourgeois Dominique, Dahan Karin, Vignard Virginie, Bonneau Dominique, Colin Estelle, Barth Magalie, Camby Caroline, Baujat Geneviève, Briceño Ignacio, Gómez Alberto, Deb Wallid, Conrad Solène, Besnard Thomas, Bézieau Stéphane, Krüger Elke, Küry Sébastien, Stankiewicz PaweƗ
Abstract excerpt
PURPOSE: Haploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial dysmorphism, and congenital malformations, defined as Stankiewicz-Isidor syndrome (STISS). Investigations showed that pathogenic variants in PSMD12 perturb intracellular protein homeostasis. Our objective was to further explore the...
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