Publication
DOORS syndrome and a recurrent truncating ATP6V1B2 variant
Eliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F. Ajeawung, Jessica Tardif, Klaus Dieterich, Tabib Dabir, Dina Vind-Kezunovic, Susan M. White, Denes Zadori, Claudia Castiglioni, Lisbeth Tranebjærg, Pernille Mathiesen Tørring, Ed Blair, Marzena Wisniewska, Maria Vittoria Camurri, Yolande van Bever, Sirinart Molidperee, Juliet Taylor, Alexandre Dionne-Laporte, Sanjay M. Sisodiya, Raoul C. M. Hennekam, Philippe M. Campeau
Genetics in Medicine, September 2020, Springer Science + Business Media
DOI: 10.1038/s41436-020-00950-9