Article
An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.
PloS one - 1 Jan 2013
Kim Bum Jun, Zaveri Hitisha P, Shchelochkov Oleg A, Yu Zhiyin, Hernández-García Andrés, Seymour Michelle L, Oghalai John S, Pereira Fred A, Stockton David W, Justice Monica J, Lee Brendan, Scott Daryl A
Abstract excerpt
Individuals with terminal and interstitial deletions of chromosome 1p36 have a spectrum of defects that includes eye anomalies, postnatal growth deficiency, structural brain anomalies, seizures, cognitive impairment, delayed motor development, behavior problems, hearing loss, cardiovascular malformations, cardiomyopathy, and renal anomalies. The proximal 1p36 genes that contribute to these defects have not been...
Topics
- Abnormalities, Multiple
- Alleles
- Animals
- Body Weight
- Cardiovascular Diseases
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes
- Chromosomes, Human, Pair 1
- Embryonic Development
- Ethylnitrosourea
- Hearing Loss