Blue rubber bleb nevus syndrome pathophysiology: Difference between revisions
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=== Genetics === | === Genetics === | ||
* [[Blue rubber bleb nevus syndrome]] is transmitted in [[autosomal dominant]] pattern. | * [[Blue rubber bleb nevus syndrome]] is transmitted in [[autosomal dominant]] pattern. | ||
* It is understood that [[Blue rubber bleb nevus syndrome]] is caused by [[gene mutation]] in the [[short arm]] of [[Chromosome 9 (human)|chromosome 9]]. | * [[Blue rubber bleb nevus syndrome]] is also transmitted in sporadically pattern sometimes. | ||
* The [[gene mutation]] in the [[short arm]] of [[Chromosome 9 (human)|chromosome 9]] | * It is understood that [[Blue rubber bleb nevus syndrome]] is caused by [[gene mutation]] in the [[short arm]] of [[Chromosome 9 (human)|chromosome 9]].<ref name="DòminiAquino2002">{{cite journal|last1=Dòmini|first1=M.|last2=Aquino|first2=A.|last3=Fakhro|first3=A.|last4=Tursini|first4=S.|last5=Marino|first5=N.|last6=Di Matteo|first6=S.|last7=Lelli Chiesa|first7=P.|title=Blue Rubber Bleb Nevus Syndrome and Gastrointestinal Haemorrhage: Which Treatment?|journal=European Journal of Pediatric Surgery|volume=12|issue=2|year=2002|pages=129–133|issn=09397248|doi=10.1055/s-2002-30172}}</ref> | ||
* The [[gene mutation]] in the [[short arm]] of [[Chromosome 9 (human)|chromosome 9]] results in the development of [[venous]] [[malformations]]. | |||
* | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 16:32, 4 December 2018
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
The exact pathogenesis of blue rubber bleb nevus syndrome is not fully understood.It is thought that blue rubber bleb nevus syndrome is caused by gene mutation.
Pathophysiology
Pathogenesis
- The exact pathogenesis of blue rubber bleb nevus syndrome is not completely understood.
- It is understood that blue rubber bleb nevus syndrome is the result of gene mutation.
Genetics
- Blue rubber bleb nevus syndrome is transmitted in autosomal dominant pattern.
- Blue rubber bleb nevus syndrome is also transmitted in sporadically pattern sometimes.
- It is understood that Blue rubber bleb nevus syndrome is caused by gene mutation in the short arm of chromosome 9.[1]
- The gene mutation in the short arm of chromosome 9 results in the development of venous malformations.
References
- ↑ Dòmini, M.; Aquino, A.; Fakhro, A.; Tursini, S.; Marino, N.; Di Matteo, S.; Lelli Chiesa, P. (2002). "Blue Rubber Bleb Nevus Syndrome and Gastrointestinal Haemorrhage: Which Treatment?". European Journal of Pediatric Surgery. 12 (2): 129–133. doi:10.1055/s-2002-30172. ISSN 0939-7248.