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Document type:
journal article 
Author(s):
Schulz, C; Kress, W; Schömig, A; Wessely, R 
Title:
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...    »
 
Journal title abbreviation:
Clin Genet 
Year:
2007 
Journal volume:
72 
Journal issue:
Pages contribution:
305-7 
Language:
eng 
Print-ISSN:
0009-9163 
TUM Institution:
I. Medizinische Klinik und Poliklinik