TY  - GEN
AU  - de Pontual,Loïc
AU  - Mathieu,Yves
AU  - Golzio,Christelle
AU  - Rio,Marlène
AU  - Malan,Valérie
AU  - Boddaert,Nathalie
AU  - Soufflet,Christine
AU  - Picard,Capucine
AU  - Durandy,Anne
AU  - Dobbie,Angus
AU  - Heron,Delphine
AU  - Isidor,Bertrand
AU  - Motte,Jacques
AU  - Newburry-Ecob,Ruth
AU  - Pasquier,Laurent
AU  - Tardieu,Marc
AU  - Viot,Géraldine
AU  - Jaubert,Francis
AU  - Munnich,Arnold
AU  - Colleaux,Laurence
AU  - Vekemans,Michel
AU  - Etchevers,Heather
AU  - Lyonnet,Stanislas
AU  - Amiel,Jeanne
TI  - Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome
SN  - 1098-1004
PY  - 2009///0706
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
KW  - Child
KW  - Child, Preschool
KW  - DNA-Binding Proteins
KW  - chemistry
KW  - Dimerization
KW  - Electroencephalography
KW  - Female
KW  - Gene Expression Profiling
KW  - Gene Expression Regulation, Developmental
KW  - HeLa Cells
KW  - Humans
KW  - Hyperventilation
KW  - pathology
KW  - Immunohistochemistry
KW  - In Situ Hybridization
KW  - Infant
KW  - Intellectual Disability
KW  - Luciferases
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mutation
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Syndrome
KW  - Transcription Factor 4
KW  - Transcription Factors
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.20935
ER  -