De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

LN Liang, X Li, S Moutton, SA Vergano, B Cogne, D Saint-Martin, ACE Hurst, YS Hu, O Bodamer, J Thevenon, CY Hung, B Isidor, B Gerard, A Rega, S Nambot, D Lehalle, Y Duffourd, C Thauvin-Robinet, L Faivre, S BezieauLS Dure, DC Helbling, D Bick, CQ Xu, QY Chen, Grazia Verheijen - Mancini, A Vitobello, QK Wang

Research output: Contribution to journalArticleAcademicpeer-review

63 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)2937-2951
Number of pages15
JournalHuman Molecular Genetics
Issue number17
Publication statusPublished - 2019

Research programs

  • EMC OR-01

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