TY  - GEN
AU  - Overwater,Eline
AU  - Efrat,Rifka
AU  - Barge-Schaapveld,Daniela Q C M
AU  - Lakeman,Phillis
AU  - Weiss,Marjan M
AU  - Maugeri,Alessandra
AU  - van Tintelen,J Peter
AU  - Houweling,Arjan C
TI  - Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
SN  - 2324-9269
PY  - 2019///0411
KW  - Adult
KW  - Female
KW  - Fibrillin-1
KW  - genetics
KW  - Genes, Dominant
KW  - Humans
KW  - Male
KW  - Marfan Syndrome
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1002/mgg3.518
ER  -