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 ◽  
...  
2020 ◽  
Vol 13 (6) ◽  
pp. 1096-1101
Author(s):  
Yusuke Hashimoto ◽  
Koji Yokoyama ◽  
Hideki Kumagai ◽  
Yuko Okada ◽  
Takanori Yamagata

2018 ◽  
Vol 113 (Supplement) ◽  
pp. S850
Author(s):  
Jack Scolaro ◽  
Deena Kapadia ◽  
Houssam Kharrat ◽  
Vani Thirumala ◽  
Seshadri Thirumala

2015 ◽  
Vol 167 (8) ◽  
pp. 1758-1762 ◽  
Author(s):  
Brandie Heald ◽  
Christina Rigelsky ◽  
Rocio Moran ◽  
Lisa LaGuardia ◽  
Margaret O'Malley ◽  
...  

2011 ◽  
Vol 9 (Suppl 1) ◽  
pp. O5 ◽  
Author(s):  
Margaret O’Malley ◽  
Lisa LaGuardia ◽  
Matthew Kalady ◽  
Joe Parambil ◽  
Brandie Leach ◽  
...  

2012 ◽  
Vol 54 (1) ◽  
pp. 120-122 ◽  
Author(s):  
Frank Schwenter ◽  
Felix Ratjen ◽  
Terri Berk ◽  
Steve Gallinger ◽  
Rob Gryfe ◽  
...  

2020 ◽  
Vol 13 (12) ◽  
pp. e236855
Author(s):  
Wendy Chang ◽  
Patricia Renaut ◽  
Casper Pretorius

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.


2001 ◽  
Vol 69 (4) ◽  
pp. 704-711 ◽  
Author(s):  
Xiao-Ping Zhou ◽  
Kelly Woodford-Richens ◽  
Rainer Lehtonen ◽  
Keisuke Kurose ◽  
Micheala Aldred ◽  
...  

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