Difference between revisions of "Hereditary hemorrhagic telangiectasia"

Hereditary hemorrhagic telangiectasia (view source)

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-'''Hereditary hemorrhagic telangiectasia''', abbreviated '''HHT''', is an inherited syndrome.<ref>{{OMIM|187300}}</ref>
+'''Hereditary hemorrhagic telangiectasia''', abbreviated '''HHT''', is an inherited syndrome,<ref>{{OMIM|187300}}</ref> due to a mutation in ''ENG'' (CD105).<ref name=omim131195>{{OMIM|131195}}</ref>
-It may occur with [[Juvenile polyposis syndrome]].<ref>{{OMIM|175050}}</ref>
+It may occur with [[Juvenile polyposis syndrome]] and be associated with a SMAD4 mutation.<ref>{{OMIM|175050}}</ref>
+==General==
+*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==
+*[[Vascular lesions]].
 ==References==