TY  - GEN
AU  - Nizon,Mathilde
AU  - Laugel,Vincent
AU  - Flanigan,Kevin M
AU  - Pastore,Matthew
AU  - Waldrop,Megan A
AU  - Rosenfeld,Jill A
AU  - Marom,Ronit
AU  - Xiao,Rui
AU  - Gerard,Amanda
AU  - Pichon,Olivier
AU  - Le Caignec,Cédric
AU  - Gérard,Marion
AU  - Dieterich,Klaus
AU  - Truitt Cho,Megan
AU  - McWalter,Kirsty
AU  - Hiatt,Susan
AU  - Thompson,Michelle L
AU  - Bézieau,Stéphane
AU  - Wadley,Alexandrea
AU  - Wierenga,Klaas J
AU  - Egly,Jean-Marc
AU  - Isidor,Bertrand
TI  - Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
SN  - 1530-0366
PY  - 2020///0501
KW  - Adolescent
KW  - Autism Spectrum Disorder
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Developmental Disabilities
KW  - Exome
KW  - Female
KW  - Frameshift Mutation
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Mediator Complex
KW  - Mutation
KW  - Sequence Deletion
KW  - Transcription Factors
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1038/s41436-019-0557-3
ER  -