Correction: 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（2020）
摘要
n amendment to this paper has been published and can be accessed via a link at the top of the paper.
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关键词
DOORS syndrome,DDOD syndrome,ATP6V1B2 gene,TBC1D24 gene,exome sequencing
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