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