Nabais Sá, Maria J

De novo and biallelic DEAF1 variants cause a phenotypic spectrum. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 09 2019 - 2059-2069 p. digital

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

1530-0366

10.1038/s41436-019-0473-6 doi


Adolescent
Adult
Alleles
Autistic Disorder--genetics
Child
Child, Preschool
DNA-Binding Proteins--genetics
Developmental Disabilities--genetics
Exome--genetics
Female
Genetic Association Studies
Humans
Intellectual Disability--genetics
Language Development Disorders--genetics
Male
Microcephaly--genetics
Mutation, Missense--genetics
Transcription Factors--genetics
Young Adult