MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of c...
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
About this item
Full title
Author / Creator
Coursimault, Juliette , Guerrot, Anne-Marie , Morrow, Michelle , Schramm, Catherine , Zamora, Francisca Millan , Shanmugham, Anita , Liu, Shuxi , Zou, Fanggeng , Bilan, Frédéric , Le Guyader, Gwenaël , Bruel, Ange-Line , Denommé-Pichon, Anne-Sophie , Faivre, Laurence , Tran Mau-Them, Frédéric , Tessarech, Marine , Colin, Estelle , El Chehadeh, Salima , Gérard, Bénédicte , Schaefer, Elise , Cogne, Benjamin , Isidor, Bertrand , Nizon, Mathilde , Doummar, Diane , Valence, Stéphanie , Héron, Delphine , Keren, Boris , Mignot, Cyril , Coutton, Charles , Devillard, Françoise , Alaix, Anne-Sophie , Amiel, Jeanne , Colleaux, Laurence , Munnich, Arnold , Poirier, Karine , Rio, Marlène , Rondeau, Sophie , Barcia, Giulia , Callewaert, Bert , Dheedene, Annelies , Kumps, Candy , Vergult, Sarah , Menten, Björn , Chung, Wendy , Hernan, Rebecca , Larson, Austin , Nori, Kelly , Stewart, Sarah , Wheless, James , Kresge, Christina , Pletcher, Beth , Caumes, Roseline , Smol, Thomas , Sigaudy, Sabine , Coubes, Christine , Helm, Margaret , Smith, Rosemarie , Morrison, Jennifer , Wheeler, Patricia , Kritzer, Amy , Jouret, Guillaume , Afenjar, Alexandra , Deleuze, Jean-François , Olaso, Robert , Boland, Anne , Poitou, Christine , Frebourg, Thierry , Houdayer, Claude , Saugier-Veber, Pascale , Nicolas, Gaël and Lecoquierre, François
Publisher
Springer Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Springer Verlag
Subjects
More information
Scope and Contents
Contents
Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developmental disorders and autism studies, the data on clinical characteristics...
Alternative Titles
Full title
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Authors, Artists and Contributors
Author / Creator
Guerrot, Anne-Marie
Morrow, Michelle
Schramm, Catherine
Zamora, Francisca Millan
Shanmugham, Anita
Liu, Shuxi
Zou, Fanggeng
Bilan, Frédéric
Le Guyader, Gwenaël
Bruel, Ange-Line
Denommé-Pichon, Anne-Sophie
Faivre, Laurence
Tran Mau-Them, Frédéric
Tessarech, Marine
Colin, Estelle
El Chehadeh, Salima
Gérard, Bénédicte
Schaefer, Elise
Cogne, Benjamin
Isidor, Bertrand
Nizon, Mathilde
Doummar, Diane
Valence, Stéphanie
Héron, Delphine
Keren, Boris
Mignot, Cyril
Coutton, Charles
Devillard, Françoise
Alaix, Anne-Sophie
Amiel, Jeanne
Colleaux, Laurence
Munnich, Arnold
Poirier, Karine
Rio, Marlène
Rondeau, Sophie
Barcia, Giulia
Callewaert, Bert
Dheedene, Annelies
Kumps, Candy
Vergult, Sarah
Menten, Björn
Chung, Wendy
Hernan, Rebecca
Larson, Austin
Nori, Kelly
Stewart, Sarah
Wheless, James
Kresge, Christina
Pletcher, Beth
Caumes, Roseline
Smol, Thomas
Sigaudy, Sabine
Coubes, Christine
Helm, Margaret
Smith, Rosemarie
Morrison, Jennifer
Wheeler, Patricia
Kritzer, Amy
Jouret, Guillaume
Afenjar, Alexandra
Deleuze, Jean-François
Olaso, Robert
Boland, Anne
Poitou, Christine
Frebourg, Thierry
Houdayer, Claude
Saugier-Veber, Pascale
Nicolas, Gaël
Lecoquierre, François
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_03820933v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03820933v1
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-021-02383-z
