New England Journal of Medicine · 1959 · 210 citations · 39 references
Life SciencesGeneticsPediatricsHuman GeneticsMedical GeneticsPulmonologyGenetic DisordersPulmonary Vascular DiseaseVascular MalformationsVascular PathologyHereditary Hemorrhagic Telangiectasia
LESS than a century ago a young man came to this country from Germany. He married and raised a family of 9 children. In 1920 he died at the age of seventy-four years, having passed on to his 330 descendants an inexorable familial disease, hemorrhagic telangiectasia. Of the descendants studied we have found nearly 40 per cent to have telangiectasia and more than 6 per cent to have pulmonary arteriovenous fistulas. This dramatizes the importance of 1 individual within a family, and emphasizes the need for further study of significant hereditary traits.Acquaintance with some of the members of this . . .
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Pulmonary arteriovenous fistula
C.J. Stringer, Arthur L. Stanley, Richard C. Bates et al. · The American Journal of Surgery · 1955 · 123 citations