Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies
Author:
Affiliation:
1. Department of Pathology & Laboratory Medicine; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania
2. Department of Pediatrics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37261/fullpdf
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3. Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome;Conlin;Am J Med Genet A,2012
4. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis;Conlin;Hum Mol Genet,2010
5. The various phenotypes in Xp deletion. observations in eleven patients;Fryns;Hum Genet,1981
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