Benutzer: Gast  Login
Dokumenttyp:
journal article 
Autor(en):
Schulz, C; Kress, W; Schömig, A; Wessely, R 
Titel:
Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGFR)-2 gene. 
Abstract:
Crouzon syndrome is an autosomal dominant disorder caused by mutation in the fibroblast growth factor receptor (FGFR)-2 gene. Recent findings from animal studies imply a critical role for FGFs in the regulation of cardiac development including cardiac cushion proliferation and valvulogenesis. We report on a 36-year-old woman, who required surgical closure for an atrial septal defect, a clinical feature that has not been previously reported in other patients with Crouzon syndrome. The findings su...    »
 
Zeitschriftentitel:
Clin Genet 
Jahr:
2007 
Band / Volume:
72 
Heft / Issue:
Seitenangaben Beitrag:
305-7 
Sprache:
eng 
Print-ISSN:
0009-9163 
TUM Einrichtung:
I. Medizinische Klinik und Poliklinik