Beauregard-Lacroix Eliane and Pacheco-Cuellar Guillermo and Ajeawung Norbert F. and Tardif Jessica and Dieterich Klaus and Dabir Tabib and Vind-Kezunovic Dina and White, Susan M. and Zádori Dénes and Castiglioni Claudia and Tranebjærg Lisbeth and Tørring Pernille Mathiesen and Blair Ed and Wisniewska Marzena and Camurri Maria Vittoria:
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
GENETICS IN MEDICINE, 23 (1).
pp. 149-154.
ISSN 1098-3600
(2021)