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

1476-5543

10.1038/jp.2012.50 doi


Biopsy, Needle
Congenital Hypothyroidism--diagnosis
Fatal Outcome
Female
Humans
Immunohistochemistry
Infant, Newborn
Mutation--genetics
Nuclear Proteins--genetics
Rare Diseases
Respiratory Distress Syndrome, Newborn--diagnosis
Term Birth
Thyroid Nuclear Factor 1
Transcription Factors--genetics