Title: |
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling |
Authors: |
Lin, Yuh-Charn, Niceta, Marcello, Muto, Valentina, Vona, Barbara, Pagnamenta, Alistair T., Maroofian, Reza, Beetz, Christian, van Duyvenvoorde, Hermine, Dentici, Maria Lisa, Lauffer, Peter, Vallian, Sadeq, Ciolfi, Andrea, Pizzi, Simone, Bauer, Peter, Grüning, Nana-Maria, Bellacchio, Emanuele, Del Fattore, Andrea, Petrini, Stefania, Shaheen, Ranad, Tiosano, Dov, Halloun, Rana, Pode-Shakked, Ben, Albayrak, Hatice Mutlu, Işık, Emregül, Wit, Jan M., Dittrich, Marcus, Freire, Bruna L., Bertola, Debora R., Jorge, Alexander A.L., Barel, Ortal, Sabir, Ataf H., Al Tenaiji, Amal M.J., Taji, Sulaima M., Al-Sannaa, Nouriya, Al-Abdulwahed, Hind, Digilio, Maria Cristina, Irving, Melita, Anikster, Yair, Bhavani, Gandham S.L., Girisha, Katta M., Haaf, Thomas, Taylor, Jenny C., Dallapiccola, Bruno, Alkuraya, Fowzan S., Yang, Ruey-Bing, Tartaglia, Marco |
Source: |
In The American Journal of Human Genetics 7 January 2021 108(1):115-133 |
Database: |
ScienceDirect |