Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.
Cozijnsen, Luc
Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome. [electronic resource] - Molecular genetics & genomic medicine 10 2019 - e00943 p. digital
Publication Type: Case Reports; Journal Article
2324-9269
10.1002/mgg3.943 doi
Actins--genetics
Adult
Cell Transdifferentiation
Female
Fibroblasts--cytology
Humans
Loeys-Dietz Syndrome--diagnosis
Male
Middle Aged
Myosin Heavy Chains--genetics
Pedigree
Polymorphism, Single Nucleotide
Receptor, Transforming Growth Factor-beta Type I--genetics
Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome. [electronic resource] - Molecular genetics & genomic medicine 10 2019 - e00943 p. digital
Publication Type: Case Reports; Journal Article
2324-9269
10.1002/mgg3.943 doi
Actins--genetics
Adult
Cell Transdifferentiation
Female
Fibroblasts--cytology
Humans
Loeys-Dietz Syndrome--diagnosis
Male
Middle Aged
Myosin Heavy Chains--genetics
Pedigree
Polymorphism, Single Nucleotide
Receptor, Transforming Growth Factor-beta Type I--genetics