SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

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; Gruening, Nana-Maria; Bellacchio, Emanuele; Del Fattore, Andrea; Petrini, Stefania; Shaheen, Ranad; Tiosano, Dov; Halloun, Rana; Ben Pode-Shakked; Albayrak, Hatice Mutlu; Isik, Emreguel; 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

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Autor(en):

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; Gruening, Nana-Maria; Bellacchio, Emanuele; Del Fattore, Andrea; Petrini, Stefania; Shaheen, Ranad; Tiosano, Dov; Halloun, Rana; Ben Pode-Shakked; Albayrak, Hatice Mutlu; Isik, Emreguel; 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

Tübinger Autor(en):

Vona, Barbara

Erschienen in:

American Journal of Human Genetics (2021), Bd. 108, H. 1, S. 115-133

Verlagsangabe:

Cell Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.ajhg.2020.11.015

ISSN:

1537-6605