Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.

Sheikhzadeh, S; Rybczynski, M; Habermann, C R; Bernhardt, A M J; Arslan-Kirchner, M; Keyser, B; Kaemmerer, H; Mir, T S; Staebler, A; Oezdal, N; Robinson, P N; Berger, J; Meinertz, T; von Kodolitsch, Y

Sheikhzadeh, S; Rybczynski, M; Habermann, C R; Bernhardt, A M J; Arslan-Kirchner, M; Keyser, B; Kaemmerer, H; Mir, T S; Staebler, A; Oezdal, N; Robinson, P N; Berger, J; Meinertz, T; von Kodolitsch, Y.

Affiliation

Sheikhzadeh S; Centre of Cardiology and Cardiovascular Surgery, University Hospital Eppendorf, Hamburg, Germany.

Clin Genet ; 79(6): 568-74, 2011 Jun.

Article in En | MEDLINE | ID: mdl-20662850

Subject(s)

Dura Mater/abnormalities; Marfan Syndrome/diagnosis; Microfilament Proteins/genetics; Protein Serine-Threonine Kinases/genetics; Receptors, Transforming Growth Factor beta/genetics; Sinus of Valsalva/abnormalities; Adolescent; Adult; Child; DNA Mutational Analysis; Diagnosis, Differential; Dilatation, Pathologic/diagnosis; Dilatation, Pathologic/genetics; Female; Fibrillin-1; Fibrillins; Genetic Testing; Humans; Male; Middle Aged; Mutation; Receptor, Transforming Growth Factor-beta Type I; Receptor, Transforming Growth Factor-beta Type II; Young Adult

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sinus of Valsalva / Protein Serine-Threonine Kinases / Receptors, Transforming Growth Factor beta / Dura Mater / Marfan Syndrome / Microfilament Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Clin Genet Year: 2011 Type: Article Affiliation country: Germany

Fulltext

XML

PubMed Links

Search on Google