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Successful Treatment of Juvenile Polyposis of Infancy With Sirolimus.
Busoni VB, Orsi M, Lobos PA, D'Agostino D, Wagener M, De la Iglesia P, Fox VL. Busoni VB, et al. Pediatrics. 2019 Aug;144(2):e20182922. doi: 10.1542/peds.2018-2922. Pediatrics. 2019. PMID: 31366686
Juvenile polyposis of infancy is a generalized severe form of juvenile polyposis syndrome associated with a poor prognosis. A 47-month-old female infant presented initially with gastrointestinal bleeding and protein-losing enteropathy at 4 months of age. ...
Juvenile polyposis of infancy is a generalized severe form of juvenile polyposis syndrome associated with a poor prognosis. A 47-mont …
Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.
Oliveira PH, Cunha C, Almeida S, Ferreira R, Maia S, Saraiva JM, Lopes MF. Oliveira PH, et al. J Pediatr Surg. 2013 Jan;48(1):e33-7. doi: 10.1016/j.jpedsurg.2012.09.067. J Pediatr Surg. 2013. PMID: 23331837 Free article.
A 3.34 Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and BMPR1A genes. The disease course was severe with diarrhea, abdominal pain, inanition, refractory anemia, rectal bleeding, hypoalbuminemia, and exudative enteropathy. ...
A 3.34 Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and BMPR1A genes. The disease course was sever …
Juvenile polyposis of infancy associated with paracentric inversion and deletion of chromosome 10 in a Hispanic patient: a case report.
Vargas-González R, de la Torre-Mondragón L, Aparicio-Rodríguez JM, Paniagua-Morgan F, López-Hernández G, Garrido-Hernández MA, Nuñez-Barrera S. Vargas-González R, et al. Pediatr Dev Pathol. 2010 Nov-Dec;13(6):486-91. doi: 10.2350/10-01-0791-CR.1. Epub 2010 Mar 24. Pediatr Dev Pathol. 2010. PMID: 20334546
Juvenile polyposis of infancy is a rare genetic disorder, involving multiple hamartomatous polyps of the gastrointestinal tract, which usually has a very aggressive clinical course and is often fatal. It is characterized by early onset (during the 1st months of life) and b …
Juvenile polyposis of infancy is a rare genetic disorder, involving multiple hamartomatous polyps of the gastrointestinal tract, which usual …