Kharbanda, Mira

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