Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate

E. S. Gillett, G. H. Deutsch, M. J. Bamshad, R. M. Mcadams, Paul C Mann

Research output: Contribution to journalArticle

6 Scopus citations


We report a case of lethal neonatal hypoxic respiratory failure and hypothyroidism in an infant with a novel missense mutation in NKX2.1.

Original languageEnglish (US)
Pages (from-to)157-160
Number of pages4
JournalJournal of Perinatology
Issue number2
StatePublished - Feb 1 2013
Externally publishedYes



  • ECMO
  • NKX2.1
  • hypothyroidism
  • respiratory failure

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

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