Genotype-Phenotype Correlations in Children with HHT.
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ABSTRACT:
SUBMITTER: Kilian A
PROVIDER: S-EPMC7565052 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Publications
Genotype-Phenotype Correlations in Children with HHT.
Kilian Alexandra A Latino Giuseppe A GA White Andrew J AJ Clark Dewi D Chakinala Murali M MM Ratjen Felix F McDonald Jamie J Whitehead Kevin K Gossage James R JR Lin Doris D Henderson Katharine K Pollak Jeffrey J McWilliams Justin P JP Kim Helen H Lawton Michael T MT Faughnan Marie E ME
Journal of clinical medicine 20200822 9
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 present with mucocutaneous telangiectasia, as well as organ arteriovenous malformations (AVMs) of the central nervous system, lungs, and liver. Genotype-phenotype correlations have been well described in adults with HHT. We aimed to in ...[more]
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