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Homozygous GDF2-Related Hereditary Hemorrhagic Telangiectasia in a Chinese Family

15 Jul 2020

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) can be clinically diagnosed, but children often lack characteristic features. We report a family with homozygous growth differentiation factor 2 (GDF2)–related HHT diagnosed by genetic testing. A boy aged 5 years and 2 months presented with isolated hypoxemia. He was the product of a consanguineous marriage; his parents were second cousins. Physical examination revealed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32669404
DOI: 10.1542/peds.2019-1970

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