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Difference between revisions of "Hereditary hemorrhagic telangiectasia"
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Hereditary hemorrhagic telangiectasia (view source)
Revision as of 14:26, 3 December 2011
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It may occur with [[Juvenile polyposis syndrome]] and be associated with a SMAD4 mutation.<ref>{{OMIM|175050}}</ref> | It may occur with [[Juvenile polyposis syndrome]] and be associated with a SMAD4 mutation.<ref>{{OMIM|175050}}</ref> | ||
==General | ==General== | ||
* | *Clinical diagnosis. | ||
===Diagnostic criteria=== | ===Diagnostic criteria=== | ||
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#Visceral lesions. | #Visceral lesions. | ||
#Family history. | #Family history. | ||
===HHT1=== | |||
*Due to ''ENG1'' mutation. | |||
*Autosomal dominant inheritance.<ref name=pmid12668602>{{Cite journal | last1 = Marchuk | first1 = DA. | last2 = Srinivasan | first2 = S. | last3 = Squire | first3 = TL. | last4 = Zawistowski | first4 = JS. | title = Vascular morphogenesis: tales of two syndromes. | journal = Hum Mol Genet | volume = 12 Spec No 1 | issue = | pages = R97-112 | month = Apr | year = 2003 | doi = | PMID = 12668602 }}</ref> | |||
*[[Arteriovenous malformation]] = hallmark lesion.<ref name=pmid12668602/> | |||
==See also== | ==See also== | ||