Genotype–Phenotype Correlations in Children with HHT

Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease mostly caused by mutations in three known genes (ENG, ACVRL1, and SMAD4), is characterized by the development of vascular malformations (VMs). Patients with HHT may present with mucocutaneous telangiectasia, as well as or...

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Detalles Bibliográficos
Autores principales: Kilian, Alexandra, Latino, Giuseppe A., White, Andrew J., Clark, Dewi, Chakinala, Murali M., Ratjen, Felix, McDonald, Jamie, Whitehead, Kevin J., Gossage, James R., Lin, Doris, Henderson, Katharine, Pollak, Jeffrey, McWilliams, Justin P., Kim, Helen, Lawton, Michael T., Faughnan, Marie E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565052/
https://www.ncbi.nlm.nih.gov/pubmed/32842615
http://dx.doi.org/10.3390/jcm9092714

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565052/
https://www.ncbi.nlm.nih.gov/pubmed/32842615
http://dx.doi.org/10.3390/jcm9092714

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