| Autor: |
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 |
| Zdroj: |
Genetics in Medicine; January 2022, Vol. 24 Issue: 1 p179-191, 13p |
| Abstrakt: |
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. |
| Databáze: |
Supplemental Index |
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