Article
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
medRxiv · 2019 · Alharatani, R.; Vervari, A.; Beleza-Meireles, A.; Ji, W.; Mis, E.; Patterson, Q.; Griffin, J.; Bhujel, N.; Chang, C.; Dixit, A.; Konstantino, M.; Healy, C.; Hannan, S.; Neo, N.; Cash, A.; Li, D.; Bhoj, E.; Zackai, E.; Cleaver, R.; Baralle, D.; McEntagart, M.; Newbury-Ecob, R.; Scott, R.; Hurst, J.; Au, P. Y. B.; Hosey, M. T.; Marciano, D.; Khokha, M.; Lakhani, S.; Liu, K.
Key facts
| Title | Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome |
|---|---|
| First author | Alharatani, R.; Vervari, A.; Beleza-Meireles, A.; Ji, W.; Mis, E.; Patterson, Q.; Griffin, J.; Bhujel, N.; Chang, C.; Dixit, A.; Konstantino, M.; Healy, C.; Hannan, S.; Neo, N.; Cash, A.; Li, D.; Bhoj, E.; Zackai, E.; Cleaver, R.; Baralle, D.; McEntagart, M.; Newbury-Ecob, R.; Scott, R.; Hurst, J.; Au, P. Y. B.; Hosey, M. T.; Marciano, D.; Khokha, M.; Lakhani, S.; Liu, K. |
| Journal | medRxiv |
| Published | Jul 27, 2019 |
| DOI | 10.1101/711184 |
| Devices mentioned | 019099, 022501 |
| Product codes mentioned | JCJ, PFT |
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- 1–9 FDA submissions mentioned
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