DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Raoul C M Hennekam, Philippe M Campeau, Sanjay M Sisodiya, Alexandre Dionne-Laporte, Juliet Taylor, Sirinart Molidperee, Yolande van Bever, Maria Vittoria Camurri, Marzena Wisniewska, Ed Blair, Pernille Mathiesen Tørring, Lisbeth Tranebjærg, Claudia Castiglioni, Denes Zadori, Guillermo Pacheco-Cuellar, Susan M White, Dina Vind-Kezunovic, Tabib Dabir, Klaus Dieterich, Jessica Tardif, Norbert F Ajeawung, Eliane Beauregard-Lacroix
Genetics in medicine : official journal of the American College of Medical Genetics 2021;23(1):149-154