Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability

2014 ◽  
Vol 164 (10) ◽  
pp. 2685-2688 ◽  
Author(s):  
Mariana Moysés Oliveira ◽  
Vera Ayres Meloni ◽  
Rosane Seidler Canonaco ◽  
Sylvia Satomi Takeno ◽  
Adriana Bortolai ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Chromosomal Rearrangement ◽  
Juvenile Polyposis ◽  
Complex Chromosomal Rearrangement

Maternal complex chromosomal rearrangement leads toTCF12microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability

2014 ◽  
Vol 164 (6) ◽  
pp. 1530-1536 ◽  
Author(s):  
Pauline Le Tanno ◽  
Brice Poreau ◽  
Francoise Devillard ◽  
Gaëlle Vieville ◽  
Florence Amblard ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Rearrangement ◽  
Complex Chromosomal Rearrangement

The Prevalence of Hereditary Hemorrhagic Telangiectasia in Juvenile Polyposis Syndrome

2012 ◽  
Vol 55 (8) ◽  
pp. 886-892 ◽  
Author(s):  
Margaret O’Malley ◽  
Lisa LaGuardia ◽  
Matthew F. Kalady ◽  
Joseph Parambil ◽  
Brandie Heald ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

scholarly journals Combined Juvenile Polyposis and Hereditary Hemorrhagic Telangiectasia

2012 ◽  
Vol 25 (4) ◽  
pp. 360-364 ◽  
Author(s):  
Jane-Claire B. Williams ◽  
J. Kent Hamilton ◽  
Michelle Shiller ◽  
Laurice Fischer ◽  
Gregory Deprisco ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis
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