TY  - GEN
AU  - Potocki,Lorraine
AU  - Shaw,Christine J
AU  - Stankiewicz,Pawel
AU  - Lupski,James R
TI  - Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]
SN  - 1098-3600
PY  - 2004///0224
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 17
KW  - genetics
KW  - Cytogenetic Analysis
KW  - Electrophoresis, Gel, Pulsed-Field
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Infant
KW  - Intellectual Disability
KW  - Phenotype
KW  - Proteins
KW  - Sleep Disorders, Intrinsic
KW  - Syndrome
KW  - Trans-Activators
KW  - Transcription Factors
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1097/01.gim.0000095625.14160.ab
ER  -