TY  - GEN
AU  - Brockschmidt,Antje
AU  - Todt,Unda
AU  - Ryu,Soojin
AU  - Hoischen,Alexander
AU  - Landwehr,Christina
AU  - Birnbaum,Stefanie
AU  - Frenck,Wilhelm
AU  - Radlwimmer,Bernhard
AU  - Lichter,Peter
AU  - Engels,Hartmut
AU  - Driever,Wolfgang
AU  - Kubisch,Christian
AU  - Weber,Ruthild G
TI  - Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
SN  - 0964-6906
PY  - 2007///1105
KW  - Animals
KW  - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
KW  - Child
KW  - Cytogenetic Analysis
KW  - DNA-Binding Proteins
KW  - Face
KW  - abnormalities
KW  - Female
KW  - Haplotypes
KW  - Humans
KW  - Hyperventilation
KW  - diagnosis
KW  - Intellectual Disability
KW  - Language Development Disorders
KW  - genetics
KW  - Models, Genetic
KW  - Mutation
KW  - Syndrome
KW  - TCF Transcription Factors
KW  - Transcription Factor 4
KW  - Transcription Factor 7-Like 2 Protein
KW  - Transcription Factors
KW  - Zebrafish
KW  - metabolism
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddm099
ER  -