Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis

Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu–Osler–Weber Syndrome (ROW) is an autosomal dominant vascular disease, with an estimated prevalence of 1:5000. Genes associated with HHT are ACVRL1, ENG, SMAD4, and GDF2, all encoding for proteins involved in the TGFβ/BMPs signaling pathway. The cl...

Descripción completa

Detalles Bibliográficos
Autores principales: Danesino, Cesare, Cantarini, Claudia, Olivieri, Carla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944132/
https://www.ncbi.nlm.nih.gov/pubmed/36810341
http://dx.doi.org/10.3390/pediatric15010011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944132/
https://www.ncbi.nlm.nih.gov/pubmed/36810341
http://dx.doi.org/10.3390/pediatric15010011

Ejemplares similares