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A Novel Variant in the ACVRL1 Gene in a Patient with Cirrhosis and Hereditary Hemorrhagic Telangiectasia

Turkish journal of haematology : official journal of Turkish Society of Haematology - 25 Aug 2021

Baysal Mehmet, Alkış Nihan, Gürkan Hakan, Demir Ahmet Muzaffer

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Share to Activin Receptors, Type II
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Identifiers

PMID: 33754658
DOI: 10.4274/tjh.galenos.2021.2020.0749
PMCID: PMC8386306

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Related research

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A Novel Variant in the ACVRL1 Gene in a Patient with Cirrhosis and Hereditary Hemorrhagic TelangiectasiaPMID 33754658Read ↗

Novel mutation c.263A>G in the ACVRL1 gene in a Japanese patient with hereditary hemorrhagic telangiectasia 2.Semantic proximity Read ↗

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene.Semantic proximity Read ↗

ACVRL1 variation-induced hereditary hemorrhagic telangiectasia presenting with pulmonary arterial hypertension: clinical and genetic analyses of three case studies.Semantic proximity Read ↗

The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.Semantic proximity Read ↗

Multiple Lesion-Specific Somatic Mutations and Bi-Allelic Loss of ACVRL1 in a single patient with Hereditary Haemorrhagic TelangiectasiaSemantic proximity Read ↗

Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Report of two FOP cases with 617G>A mutation in the ACVR1 gene from Chinese population.Semantic proximity Read ↗

An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis.Semantic proximity Read ↗

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

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