Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. [electronic resource]
- European journal of medical genetics Jun 2016
- 310-4 p. digital
Publication Type: Journal Article
1878-0849
10.1016/j.ejmg.2016.04.003 doi
5' Untranslated Regions Basic Helix-Loop-Helix Leucine Zipper Transcription Factors--genetics Exons--genetics Facies Female Humans Hyperventilation--genetics Intellectual Disability--genetics Male Pedigree Phenotype Point Mutation--genetics Transcription Factor 4 Transcription Factors--genetics Transcription, Genetic