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Article

Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT).

International journal of molecular sciences - 12 Jul 2024

Whitehead Kevin J, Toydemir Doruk, Wooderchak-Donahue Whitney, Oakley Gretchen M, McRae Bryan, Putnam Angelica, McDonald Jamie, Bayrak-Toydemir Pinar

Abstract excerpt

Telangiectases and arteriovenous malformations (AVMs) are the characteristic lesions of Hereditary Hemorrhagic Telangiectasia (HHT). Somatic second-hit loss-of-function variations in the HHT causative genes, ENG and ACVRL1, have been described in dermal telangiectasias. It is unclear if somatic second-hit mutations also cause the formation of AVMs and nasal telangiectasias in HHT. To investigate the genetic...

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Activin Receptors, Type II
Aged
Arteriovenous Malformations
Endoglin
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Telangiectasia, Hereditary Hemorrhagic

Vascular Anomalies and Treatments

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PMID: 39062925
DOI: 10.3390/ijms25147682
PMCID: PMC11276621

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Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT).PMID 39062925Read ↗

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