Journal article

DOORS syndrome and a recurrent truncatingATP6V1B2variant

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 Tranebjaerg, Pernille Mathiesen Torring, Ed Blair, Marzena Wisniewska, Maria Vittoria Camurri, Yolande van Bever, Sirinart Molidperee, Juliet Taylor, Alexandre Dionne-Laporte, Sanjay M Sisodiya Show all

Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2020

Grants

Funding Acknowledgements

We thank all families. This study was funded in part by Canadian Institutes of Health Research and Fonds de la Recherche du Quebec-Sante awards to P.M.C.