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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Detalhes bibliográficos
Publicado no:J Clin Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7565052/
https://ncbi.nlm.nih.gov/pubmed/32842615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm9092714
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