Journal
NATURE GENETICS
Volume 38, Issue 9, Pages 999-1001Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1853
Keywords
-
Categories
Ask authors/readers for more resources
Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available