- Tytuł:
- 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
- Autorzy:
-
Jamsheer A
Henggeler C
Wierzba J
Loeys B
De Paepe A
Stheneur C.
Badziag N.
Matuszewska K
Matyas G
Latos-Bielenska A - Tematy:
-
new syndrome
sporadic syndrome
Loeys-Dietz syndrome
genetic syndrome
recurrent mutation
R528C gene
TGFBR2 gene
interindividual clinical variability
marfanoid habitus
Marfan syndrome related disease - Pokaż więcej
- Dostawca treści:
- AGRO
Artykuł