NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy. [electronic resource]
- European journal of medical genetics Oct 2014
- 558-61 p. digital
Publication Type: Case Reports; Journal Article
1878-0849
10.1016/j.ejmg.2014.08.003 doi
DNA Mutational Analysis Exome Frameshift Mutation Heterotaxy Syndrome--genetics Homeobox Protein Nkx-2.5 Homeodomain Proteins--genetics Humans Infant, Newborn Male Transcription Factors--genetics