Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4.

Mazzella, J-M

Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. [electronic resource] - Clinical genetics 03 2017 - 458-462 p. digital

Publication Type: Journal Article

1399-0004

10.1111/cge.12838 doi


Aortic Aneurysm, Thoracic--genetics
Arteries--pathology
Female
Frameshift Mutation
Humans
Intracranial Aneurysm--genetics
Loeys-Dietz Syndrome--genetics
Male
Mutation
Pedigree
Phenotype
Signal Transduction--genetics
Transforming Growth Factor beta2--genetics