Genotype–Phenotype Correlations in Children with HHT

Genotype–Phenotype Correlations in Children with HHT

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

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Bibliographic Details
Main Authors: Alexandra Kilian, Giuseppe A. Latino, Andrew J. White, Dewi Clark, Murali M. Chakinala, Felix Ratjen, Jamie McDonald, Kevin J. Whitehead, James R. Gossage, Doris Lin, Katharine Henderson, Jeffrey Pollak, Justin P. McWilliams, Helen Kim, Michael T. Lawton, Marie E. Faughnan, the Brain Vascular Malformation Consortium HHT Investigator Group
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Journal of Clinical Medicine
Subjects:
Hereditary hemorrhagic telangiectasia
pediatrics
genotype–phenotype correlation
arteriovenous malformation
<i>ENG</i>
<i>ACVRL1</i>
Online Access:https://www.mdpi.com/2077-0383/9/9/2714

Internet

https://www.mdpi.com/2077-0383/9/9/2714

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