TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility

Autor:	Engwerda, Aafke, Leenders, Erika K. S. M., Frentz, Barbara, Terhal, Paulien A., Lohner, Katharina, De Vries, Bert B. A., Dijkhuizen, Trijnie, Vos, Yvonne J., Rinne, Tuula, Van den Berg, Maarten P., Roofthooft, Marc T. R., Deelen, Patrick, van Ravenswaaij-Arts, Conny M. A., Kerstjens-Frederikse, Wilhelmina S.
Přispěvatelé:	Cardiovascular Centre (CVC), Clinical Cognitive Neuropsychiatry Research Program (CCNP)
Jazyk:	angličtina
Rok vydání:	2022
Zdroj:	European Journal of Human Genetics, 30(SUPPL 1), 366-366. Nature Publishing Group
ISSN:	1018-4813
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=narcis______::236bf72d02bd1a110887e0089c2e42b7 https://research.rug.nl/en/publications/9abc8409-0b28-424b-b3f6-b49a66497666 Zobrazit plný text záznamu Full text from SpringerLink