Erhart, Philipp

Familial aortic disease and a large duplication in chromosome 16p13.1. [electronic resource] - Molecular genetics & genomic medicine 05 2018 - 441-445 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

2324-9269

10.1002/mgg3.371 doi


Adult
Aged
Aortic Dissection--genetics
Aorta--physiology
Aortic Aneurysm, Thoracic--genetics
Aortic Diseases--genetics
Chromosome Structures--genetics
Chromosomes, Human, Pair 16--genetics
Databases, Genetic
Exome
Family
Female
Gene Duplication--genetics
Genetic Predisposition to Disease--genetics
Humans
Male
Middle Aged
Mutation
Pedigree
Phenotype
Exome Sequencing--methods