MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Coursimault, J., Guerrot, A.-M., Morrow, M. M., Schramm, C., Zamora, F. M., Shanmugham, A., Liu, S., Zou, F., Bilan, F., Le Guyader, G., Bruel, A.-L., Denommé-Pichon, A.-S., Faivre, L., Tran Mau-Them, F., Tessarech, M., Colin, E., El Chehadeh, S., Gérard, B., Schaefer, E., … Lecoquierre, F. (2021). MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Human Genetics, 141(1), 65–80. https://doi.org/10.1007/s00439-021-02383-z
Authors:
Juliette Coursimault
Anne-Marie Guerrot
Michelle M. Morrow
Catherine Schramm
Francisca Millan Zamora
Anita Shanmugham
Shuxi Liu
Fanggeng Zou
Frédéric Bilan
Gwenaël Le Guyader
Ange-Line Bruel
Anne-Sophie Denommé-Pichon
Laurence Faivre
Frédéric Tran Mau-Them
Marine Tessarech
Estelle Colin
Salima El Chehadeh
Bénédicte Gérard
Elise Schaefer
Benjamin Cogne
Bertrand Isidor
Mathilde Nizon
Diane Doummar
Stéphanie Valence
Delphine Héron
Boris Keren
Cyril Mignot
Charles Coutton
Françoise Devillard
Anne-Sophie Alaix
Jeanne Amiel
Laurence Colleaux
Arnold Munnich
Karine Poirier
Marlène Rio
Sophie Rondeau
Giulia Barcia
Bert Callewaert
Annelies Dheedene
Candy Kumps
Sarah Vergult
Björn Menten
Wendy K. Chung
Rebecca Hernan
Austin Larson
Kelly Nori
Sarah Stewart
James Wheless
Christina Kresge
Beth A. Pletcher
Roseline Caumes
Thomas Smol
Sabine Sigaudy
Christine Coubes
Margaret Helm
Rosemarie Smith
Jennifer Morrison
Patricia G. Wheeler
Amy Kritzer
Guillaume Jouret
Alexandra Afenjar
Jean-François Deleuze
Robert Olaso
Anne Boland
Christine Poitou
Thierry Frebourg
Claude Houdayer
Pascale Saugier-Veber
Gaël Nicolas
François Lecoquierre
Affiliated Authors:
Wendy K. Chung
Rebecca Hernan
Columbia Affiliation:
Subjects:
Genetic Variation (MeSH)
Nerve Tissue Proteins (MeSH)
Neurodevelopmental Disorders (MeSH)
Transcription Factors (MeSH)
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Publication Type:
Article
Unique ID:
10.1007/s00439-021-02383-z
PMID:
34748075
DOI:
10.1007/s00439-021-02383-z
Journal:
Human Genetics
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
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Record Created: