A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype

Swiss Medical Weekly

Volumn 138, Issue 29-30, 2008, Pages 432-436

  Argyriou, Loukas ^a,d,e   Wirbelauer, Johannes ^b   Dev, Arvind ^a   Panchulidze, Irakli ^a   Shoukier, Moneef ^a   Teske, Ute ^a   Nayernia, Karim ^c  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^e UNIVERSITY OF LÜBECK   (Germany)

Author keywords

Epistaxis; Gene polymorphisms; Heart hypertrophy; Mutation; Osler Weber Rendu; Telangiectasia

Indexed keywords

ENDOGLIN;

ANAMNESIS; ANGIOCARDIOGRAPHY; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE SEVERITY; DNA POLYMORPHISM; ECHOGRAPHY; EPISTAXIS; EXON; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HEART CATHETERIZATION; HEART FAILURE; HEART HYPERTROPHY; HUMAN; LASER COAGULATION; NEWBORN; PHENOTYPE; POLYMERASE CHAIN REACTION; QUANTITATIVE ANALYSIS; RENDU OSLER WEBER DISEASE; SOUTHERN BLOTTING; THORAX RADIOGRAPHY; ULTRASOUND; X RAY ANALYSIS;

EID: 48349093778     PISSN: 14247860     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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