Developmental BiologybioRxivPreprint
In-frame deletion of SPECC1L microtubule binding domain results in embryonic tissue movement and fusion defects
Jeremy P. Goering, Luke W. Wenger, Marta Stetsiv…·Irfan Saadi
This study shows that in-frame deletions in the SPECC1L CCD2 domain cause embryonic tissue movement and fusion defects, leading to cleft palate and exencephaly, and identifies CCD2 as a gain-of-function mutation.
DOI 10.1101/2021.01.28.428634