Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate. [electronic resource]
Producer: 20130813Description: 157-60 p. digitalISSN:- 1476-5543
- 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
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Publication Type: Case Reports; Journal Article
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