Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.
Overwater, Eline
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant. [electronic resource] - Molecular genetics & genomic medicine 02 2019 - e00518 p. digital
Publication Type: Journal Article
2324-9269
10.1002/mgg3.518 doi
Adult
Female
Fibrillin-1--genetics
Genes, Dominant
Humans
Male
Marfan Syndrome--genetics
Middle Aged
Mutation, Missense
Pedigree
Phenotype
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant. [electronic resource] - Molecular genetics & genomic medicine 02 2019 - e00518 p. digital
Publication Type: Journal Article
2324-9269
10.1002/mgg3.518 doi
Adult
Female
Fibrillin-1--genetics
Genes, Dominant
Humans
Male
Marfan Syndrome--genetics
Middle Aged
Mutation, Missense
Pedigree
Phenotype