Clinical phenotype of the recurrent 1q21.1 copy-number variant.

Raphael BernierKyle J SteinmanBeau ReillyArianne Stevens WallaceElliott H SherrNicholas PojmanHeather C MeffordJennifer GerdtsRachel EarlEllen HansonRobin P Goin-KochelLeandra BerryStephen KanneLeeAnne Green SnyderSarah SpenceMelissa B RamockiDavid W EvansJohn E SpiroChrista L MartinDavid H Ledbetter Wendy K Chungnull null

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

Individuals with 1q21.1 deletions or duplications exhibit consistent deficits on motor and cognitive functioning and abnormalities in head circumference.Genet Med 18 4, 341-349.

Keyphrases

copy number
mitochondrial dna
genome wide
body mass index
traumatic brain injury
dna methylation
body weight
optic nerve