Pehlivan, Davut

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. [electronic resource] - American journal of human genetics 07 2019 - 132-150 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2019.05.015 doi


Adolescent
Adult
Arthrogryposis--genetics
Child
Child, Preschool
Cohort Studies
Connectin--genetics
DNA Copy Number Variations
Female
Genetic Markers
Genomics--methods
Gestational Age
Humans
Infant
Infant, Newborn
Male
Mosaicism
Multifactorial Inheritance--genetics
Mutation
Pedigree
Ryanodine Receptor Calcium Release Channel--genetics
Vesicular Transport Proteins--genetics
Exome Sequencing
Young Adult