Apparent Germline Mosaicism for a Novel 19p13.13 Deletion DisruptingNFIXandCACNA1A
Author:
Affiliation:
1. Division of Medical Genetics, Department of Pediatrics; University of Iowa Hospitals and Clinics; Iowa City, Iowa
2. Mercy Medical Center; Des Moines, Iowa
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35790/fullpdf
Reference15 articles.
1. Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms;Auvin;Epilepsia,2009
2. The transcription factor Nfix is essential for normal brain development;Campbell;BMC Dev Biol,2008
3. A novel microdeletion/microduplication syndrome of 19p13.13;Dolan;Genet Med,2010
4. Nuclear factor I X deficiency causes brain malformation and severe skeletal defects;Driller;Mol Cell Biol,2007
5. The UCSC Genome Browser database: Update 2011;Fujita;Nucleic Acids Res,2011
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