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Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that is caused by mutations in mainly two genes, that is ENG, encoding endoglin (HHT1), or ACVRL1, encoding activin receptor‐like… Click to show full abstract
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that is caused by mutations in mainly two genes, that is ENG, encoding endoglin (HHT1), or ACVRL1, encoding activin receptor‐like kinase 1 (ALK‐1/HHT2). HHT is characterized by recurrent epistaxis, mucocutaneous telangiectasia, and vascular visceral dysplasia responsible for visceral arteriovenous malformations (AVM).
Keywords:
hereditary hemorrhagic;
telangiectasia;
non invasive;
arteriovenous malformations;
hemorrhagic telangiectasia
Journal Title: Pediatric Pulmonology
Year Published: 2017
Link to full text (if available)
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Journal Title: Pediatric Pulmonology
Year Published: 2017
Link to full text (if available)
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recommendations!