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Dokumenttyp:
Article; Case Reports; Journal Article; Observational Study
Autor(en):
Westphal, Dominik S; Mastantuono, Elisa; Seidel, Heide; Riedhammer, Korbinian M; Hahn, Andreas; Vill, Katharina; Wagner, Matias
Titel:
There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome.
Abstract:
BACKGROUND: Congenital heart defects (CHD) are the most common birth defect and disease-causing variant in TAB2 have found to be associated with isolated CHD. Recently, it became evident that pathogenic, mostly loss-of-function variants in TAB2 can also cause syndromic CHD that includes connective tissue anomalies. The number of published cases is limited posing a challenge for counseling affected patients and their relatives. METHODS: Cases in whom whole exome sequencing was executed at our ins...     »
Zeitschriftentitel:
Gene
Jahr:
2022
Band / Volume:
814
Volltext / DOI:
doi:10.1016/j.gene.2021.146167
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/34995729
Print-ISSN:
0378-1119
TUM Einrichtung:
611; Institut für Humangenetik; Klinik und Poliklinik für Innere Medizin I, Kardiologie; Professur für Nephrologie (Prof. Heemann)
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