Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.

Lynnea MyersMoira BlythKamran MoradkhaniDubravka HranilovićSam PolesieJohan IsakssonAnn NordgrenMaja BucanMarie VincentSven BölteBritt-Marie AnderlidKristiina Tammimies

Published in: Molecular genetics & genomic medicine (2019)

This case series expands our knowledge on this rare genetic aberration and suggests that large 12q12 duplications may increase the risk for developing NDDs.

Keyphrases

healthcare
genome wide
copy number
gene expression
dna methylation