TY  - GEN
AU  - Campeau,Philippe M
AU  - Hennekam,Raoul C
TI  - DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome
SN  - 1552-4876
PY  - 2015///0727
KW  - Abnormalities, Multiple
KW  - etiology
KW  - Carrier Proteins
KW  - genetics
KW  - Chromosomal Proteins, Non-Histone
KW  - Craniofacial Abnormalities
KW  - DNA-Binding Proteins
KW  - Exome
KW  - Face
KW  - abnormalities
KW  - GTPase-Activating Proteins
KW  - Genetic Association Studies
KW  - Hand Deformities, Congenital
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Intellectual Disability
KW  - Membrane Proteins
KW  - Micrognathism
KW  - Mutation
KW  - Nails, Malformed
KW  - Neck
KW  - Nerve Tissue Proteins
KW  - SMARCB1 Protein
KW  - Seizures
KW  - Transcription Factors
N1  - Publication Type: Comparative Study; Journal Article
UR  - https://doi.org/10.1002/ajmg.c.31412
ER  -