Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].

Potocki, Lorraine

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics - 430-4 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

1098-3600

10.1097/01.gim.0000095625.14160.ab doi


Adolescent
Adult
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 17--genetics
Cytogenetic Analysis
Electrophoresis, Gel, Pulsed-Field
Humans
In Situ Hybridization, Fluorescence
Infant
Intellectual Disability--genetics
Phenotype
Proteins--genetics
Sleep Disorders, Intrinsic--genetics
Syndrome
Trans-Activators
Transcription Factors