Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu–Osler–Weber syndrome, is a disorder of angiogenesis characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations. This rare autosomal dominant disorder is caused by pathogenic variants in the <i>ENG</i> and <...

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Detalhes bibliográficos

Principais autores:	Virginia Mirra, Margherita Rosa, Cristina Fontanella, Martina Mancuso, Fabio Antonelli, Alice Castaldo, Annalisa Allegorico, Maria Giovanna Russo, Mario Giordano, Alfonsina Tirozzi, Paolo Siani, Daniele De Brasi
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2025-12-01
coleção:	Children
Assuntos:	telangiectasia arteriovenous malformation epistaxis HHT Rendu Osler
Acesso em linha:	https://www.mdpi.com/2227-9067/12/12/1701
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