Article
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2021
Beauregard-Lacroix Eliane, Pacheco-Cuellar Guillermo, Ajeawung Norbert F, Tardif Jessica, Dieterich Klaus, Dabir Tabib, Vind-Kezunovic Dina, White Susan M, Zadori Denes, Castiglioni Claudia, Tranebjærg Lisbeth, Tørring Pernille Mathiesen, Blair Ed, Wisniewska Marzena, Camurri Maria Vittoria, van Bever Yolande, Molidperee Sirinart, Taylor Juliet, Dionne-Laporte Alexandre, Sisodiya Sanjay M, Hennekam Raoul C M, Campeau Philippe M
Abstract excerpt
PURPOSE: Biallelic variants in TBC1D24, which encodes a protein that regulates vesicular transport, are frequently identified in patients with DOORS (deafness, onychodystrophy, osteodystrophy, intellectual disability [previously referred to as mental retardation], and seizures) syndrome. The aim of the study was to identify a genetic cause in families with DOORS syndrome and without a TBC1D24 variant. METHODS:...
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