article_metadata: Pernille M Tørring Anette D Kjeldsen Lilian Bomme Ousager Klaus Brusgaard
article_metadata: 10.1002/mgg3.361
article_metadata: Mol Genet Genomic Med
article_metadata: 2018 Jan;6(1):121-125.
article_metadata: eng hht genetic testing hereditary hemorrhagic telangiectasia mosaic mosaicism mutational mosaicism
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/29243366/
article_metadata: Endoglin / genetics Telangiectasia, Hereditary Hemorrhagic / genetics
article_metadata: Endoglin / genetics Telangiectasia, Hereditary Hemorrhagic / genetics Case Reports Activin Receptors, Type II / genetics Adult Aged Base Sequence Endoglin / physiology Exons Female Frameshift Mutation Genetic Testing Humans Mosaicism Mutation Pedigree Smad4 Protein / genetics Telangiectasia, Hereditary Hemorrhagic / physiopathology ENG protein, human Endoglin SMAD4 protein, human Smad4 Protein ACVRL1 protein, human Activin Receptors, Type II
article_metadata: PMC5823686
article_metadata: 29243366
article_metadata: ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia
article_metadata: 2018