Author:
Gillentine Madelyn A.,Yin Jiani,Bajic Aleksandar,Zhang Ping,Cummock Steven,Kim Jean J.,Schaaf Christian P.
Funder
IDDRC
National Institute of General Medical Sciences
Subject
Genetics (clinical),Genetics
Reference64 articles.
1. The human clinical phenotypes of altered CHRNA7 copy number;Gillentine;Biochem. Pharmacol.,2015
2. Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature;Lowther;Genet. Med.,2015
3. Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings;Spielmann;Eur. J. Med. Genet.,2011
4. A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes;Lepichon;Am. J. Med. Genet. A.,2010
5. Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis;Masurel-Paulet;Am. J. Med. Genet. A.,2014
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