NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy.

Izumi, Kosuke

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