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3. [Gene diagnosis and treatment of hereditary hemorrhagic telangiectasia with epistaxis as its main symptom]. Leng H; Zhang Q; Shi L Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Jul; 33(7):591-592. PubMed ID: 31327192 [No Abstract] [Full Text] [Related]
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11. Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. Balachandar S; Graves TJ; Shimonty A; Kerr K; Kilner J; Xiao S; Slade R; Sroya M; Alikian M; Curetean E; Thomas E; McConnell VPM; McKee S; Boardman-Pretty F; Devereau A; Fowler TA; Caulfield MJ; Alton EW; Ferguson T; Redhead J; McKnight AJ; Thomas GA; ; Aldred MA; Shovlin CL Am J Med Genet A; 2022 Mar; 188(3):959-964. PubMed ID: 34904380 [TBL] [Abstract][Full Text] [Related]
12. Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG. Villa D; Cinnante C; Valcamonica G; Manenti G; Lanfranconi S; Colombi A; Ghione I; Saetti MC; D'Amico M; Bonato S; Bresolin N; Comi GP; Ronchi D BMC Neurol; 2020 Aug; 20(1):316. PubMed ID: 32847536 [TBL] [Abstract][Full Text] [Related]
13. Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs. Saleh M; Miron I; Al-Rukban H; Chitayat D; Nezarati MM Prenat Diagn; 2016 Sep; 36(9):891-3. PubMed ID: 27381467 [No Abstract] [Full Text] [Related]
14. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. Berg J; Porteous M; Reinhardt D; Gallione C; Holloway S; Umasunthar T; Lux A; McKinnon W; Marchuk D; Guttmacher A J Med Genet; 2003 Aug; 40(8):585-90. PubMed ID: 12920067 [TBL] [Abstract][Full Text] [Related]
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