A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability

Journal of Applied Genetics

Volumn 50, Issue 4, 2009, Pages 405-410

  Jamsheer, A ^a,b   Henggeler, C ^c   Wierzba, J ^d   Loeys, B ^e   de Paepe, A ^e   Stheneur, Ch ^f,g   Badziag, N ^b   Matuszewska, K ^b   Matyas, G ^c   Latos Bielenska A ^a,b  

^a Center for Medical Genetics in Pozna   (Poland)

^b POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d MEDICAL UNIVERSITY OF GDANSK   (Poland)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f HÔPITAL AMBROISE PARÉ   (France)

^g BICHAT HOSPITAL   (France)

Author keywords

Arterial tortuosity; Loeys Dietz syndrome; Marfan related disorder; Marfanoid habitus; Missense mutation; TGFBR1; TGFBR2

Indexed keywords

EID: 70350651190     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03195701     Document Type: Article

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