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Titel:

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

Dokumenttyp:
Journal Article
Autor(en):
Sheikhzadeh, S; Rybczynski, M; Habermann, C; Bernhardt, A; Arslan-Kirchner, M; Keyser, B; Kaemmerer, H; Mir, T; Staebler, A; Oezdal, N; Robinson, P; Berger, J; Meinertz, T; von Kodolitsch, Y
Abstract:
Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that are unrelated to mutations in the FBN1, TGFBR1 or TGFBR2 genes. Here, we assessed dural ectasia in 33 individuals both with typical manifestations of heritable connective tissue disea...     »
Zeitschriftentitel:
Clin Genet
Jahr:
2011
Band / Volume:
79
Heft / Issue:
6
Seitenangaben Beitrag:
568-74
Sprache:
eng
Volltext / DOI:
doi:10.1111/j.1399-0004.2010.01494.x
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/20662850
Print-ISSN:
0009-9163
TUM Einrichtung:
Klinik für Kinderkardiologie und angeborene Herzfehler (Prof. Hess)
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