A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome
Titel:
A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome
Auteur:
Markholt, Sara Skaerbaek, Jens Munk, Kim Andersen, Brian N. Lilballe, Dorte L. Blechingberg, Jenny Petersen, Jesper P. Bjerre, Jesper V. Gregersen, Pernille A. Kyng, Kasper J.