Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate.
We report a case of lethal neonatal hypoxic respiratory failure and hypothyroidism in an infant with a novel missense mutation in NKX2.1.
Department of Pediatrics, Division of Neonatology, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.
E S
ES
Gillett
G H
GH
Deutsch
M J
MJ
Bamshad
R M
RM
McAdams
P C
PC
Mann
D001707:Biopsy, Needle; D003409:Congenital Hypothyroidism / Q000175:diagnosis / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D035583:Rare Diseases; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis / Q000235:genetics*; D047929:Term Birth; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics*
D009687:Nuclear Proteins; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors