Gillett, E S Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate. [electronic resource] - Journal of perinatology : official journal of the California Perinatal Association Feb 2013 - 157-60 p. digital Publication Type: Case Reports; Journal Article ISSN: 1476-5543 Standard No.: 10.1038/jp.2012.50 doi Subjects--Topical Terms: Biopsy, NeedleCongenital Hypothyroidism--diagnosisFatal OutcomeFemaleHumansImmunohistochemistryInfant, NewbornMutation--geneticsNuclear Proteins--geneticsRare DiseasesRespiratory Distress Syndrome, Newborn--diagnosisTerm BirthThyroid Nuclear Factor 1Transcription Factors--genetics