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 Bezieau; LS Dure; DC Helbling; D Bick; CQ Xu; QY Chen; Grazia Verheijen - Mancini; A Vitobello; QK Wang

doi:10.1093/hmg/ddz117

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

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

37 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	2937-2951
Number of pages	15
Journal	Human Molecular Genetics
Volume	28
Issue number	17
DOIs	https://doi.org/10.1093/hmg/ddz117
Publication status	Published - 2019

Access to Document

10.1093/hmg/ddz117

http://hdl.handle.net/1765/119599

Cite this

Liang, LN., Li, X., Moutton, S., Vergano, SA., Cogne, B., Saint-Martin, D., Hurst, ACE., Hu, YS., Bodamer, O., Thevenon, J., Hung, CY., Isidor, B., Gerard, B., Rega, A., Nambot, S., Lehalle, D., Duffourd, Y., Thauvin-Robinet, C., Faivre, L., ... Wang, QK. (2019). De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. Human Molecular Genetics, 28(17), 2937-2951. https://doi.org/10.1093/hmg/ddz117

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

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

year = "2019",

doi = "10.1093/hmg/ddz117",

language = "Undefined/Unknown",

volume = "28",

pages = "2937--2951",

journal = "Human Molecular Genetics",

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Liang, LN, Li, X, Moutton, S, Vergano, SA, Cogne, B, Saint-Martin, D, Hurst, ACE, Hu, YS, Bodamer, O, Thevenon, J, Hung, CY, Isidor, B, Gerard, B, Rega, A, Nambot, S, Lehalle, D, Duffourd, Y, Thauvin-Robinet, C, Faivre, L, Bezieau, S, Dure, LS, Helbling, DC, Bick, D, Xu, CQ, Chen, QY, Verheijen - Mancini, G, Vitobello, A & Wang, QK 2019, 'De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes', Human Molecular Genetics, vol. 28, no. 17, pp. 2937-2951. https://doi.org/10.1093/hmg/ddz117

TY - JOUR

T1 - De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

AU - Liang, LN

AU - Li, X

AU - Moutton, S

AU - Vergano, SA

AU - Cogne, B

AU - Saint-Martin, D

AU - Hurst, ACE

AU - Hu, YS

AU - Bodamer, O

AU - Thevenon, J

AU - Hung, CY

AU - Isidor, B

AU - Gerard, B

AU - Rega, A

AU - Nambot, S

AU - Lehalle, D

AU - Duffourd, Y

AU - Thauvin-Robinet, C

AU - Faivre, L

AU - Bezieau, S

AU - Dure, LS

AU - Helbling, DC

AU - Bick, D

AU - Xu, CQ

AU - Chen, QY

AU - Verheijen - Mancini, Grazia

AU - Vitobello, A

AU - Wang, QK

PY - 2019

Y1 - 2019

U2 - 10.1093/hmg/ddz117

DO - 10.1093/hmg/ddz117

M3 - Article

VL - 28

SP - 2937

EP - 2951

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 17

ER -