학술논문
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype
Document Type
Article
Author
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
Source
Genetics in Medicine; January 2022, Vol. 24 Issue: 1 p179-191, 13p
Subject
Language
ISSN
10983600; 15300366
Abstract
Haploinsufficiency of PSMD12has 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 PSMD12perturb intracellular protein homeostasis. Our objective was to further explore the clinical and molecular phenotypic spectrum of STISS.