Dines, Jennifer N

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 03 2019 - 601-607 p. digital

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

1530-0366

10.1038/s41436-018-0137-y doi


Adolescent
Aryl Hydrocarbon Receptor Nuclear Translocator--genetics
Brain Diseases--genetics
Child
Child, Preschool
DNA Copy Number Variations--genetics
Developmental Disabilities--genetics
Exome
Family
Female
Genotype
Humans
Intellectual Disability--genetics
Male
Pedigree
Phenotype
Seizures--genetics
Exome Sequencing--methods