Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

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Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Author: Hengel, Holger; Hannan, Shabab B.; Dyack, Sarah; MacKay, Sara B.; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S.; Alzaidan, Hamad; Alsaif, Hessa S.; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R.; Gleeson, Joseph J.; Dehghani, Mohammadreza; Mehrjardi, Mohammad Y., V; Sherr, Elliott H.; Parks, Kendall C.; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A.; Pagnamenta, Alistair T.; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Riess, Angelika; Haack, Tobias B.; Naegele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schoels, Ludger
Tübinger Autor(en):
Hengel, Holger
Hannan, Shabab B.
Riess, Angelika
Schuster, Stefanie
Hauser, Stefan
Admard, Jakob
Casadei, Nicolas
Velic, Ana
Macek, Boris
Ossowski, Stephan
Haack, Tobias
Nägele, Thomas
Schöls, Ludger
Published in: American Journal of Human Genetics (2021), Bd. 108, H. 6, S. 1069-1082
Verlagsangabe: Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2021.04.024
ISSN: 1537-6605
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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