Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome release_ukoawi2mizaotajghrmdf7zx2m

by Pauline Arnaud, Nadine Hanna, Mélodie Aubart, Bruno Leheup, Sophie Dupuis-Girod, Sophie Naudion, Didier Lacombe, Olivier Milleron, Sylvie Odent, Laurence Faivre, Laurence Bal, Thomas Edouard (+6 others)

Published in Journal of Medical Genetics by BMJ.

2016   Volume 54, p100-103

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