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Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 05/2017, Volume 19, Issue 5, pp. 575 - 582
Journal Article
PLoS ONE, 10/2014, Volume 9, Issue 10
Pallister Killian syndrome (OMIM: # 601803) is a rare multisystem disorder typically caused by tissue limited mosaic tetrasomy of chromosome 12p (isochromosome... 
Journal Article
Journal Article
Case reports in genetics, ISSN 2090-6544, 2013, Volume 2013, pp. 857926 - 4
We present a rare case of mosaicism for a structural abnormality of chromosome 12 in a patient with phenotypic features of Pallister-Killian syndrome. A... 
Case Report
Journal Article
Current Pathobiology Reports, ISSN 2167-485X, 9/2017, Volume 5, Issue 3, pp. 233 - 241
Journal Article
Journal Article
Circulation, ISSN 0009-7322, 11/2016, Volume 134, Issue Suppl_1 Suppl 1, pp. A16899 - A16899
IntroductionSudden cardiac arrest/death (SCA/D) is an uncommon, but tragic occurrence in youth. Causes include inherited structural, functional, and electrical... 
Journal Article