| Autor: |
Micale, Lucia, Morlino, Silvia, Carbone, Annalucia, Carissimo, Annamaria, Nardella, Grazia, Fusco, Carmela, Palumbo, Orazio, Schirizzi, Annalisa, Russo, Federica, Mazzoccoli, Gianluigi, Breckpot, Jeroen, De Luca, Chiara, Ferraris, Alessandro, Giunta, Cecilia, Grammatico, Paola, Haanpää, Maria K., Mancano, Giorgia, Forzano, Giulia, Cacchiarelli, Davide, Van Esch, Hilde, Callewaert, Bert, Rohrbach, Marianne, Castori, Marco |
| Zdroj: |
Genetics in Medicine; February 2022, Vol. 24 Issue: 2 p439-453, 15p |
| Abstrakt: |
This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, musculoskeletal, and cutaneous anomalies caused by heterozygous loss-of-function variants in TAB2. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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