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 Citations (Scopus)

Abstract

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
Volume33
Issue number2
DOIs
StatePublished - Feb 1 2013
Externally publishedYes

Fingerprint

Missense Mutation
Hypothyroidism
Respiratory Insufficiency
Newborn Infant
Mutation

Keywords

  • ECMO
  • NKX2.1
  • hypothyroidism
  • respiratory failure

ASJC Scopus subject areas

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

Cite this

Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate. / Gillett, E. S.; Deutsch, G. H.; Bamshad, M. J.; Mcadams, R. M.; Mann, Paul C.

In: Journal of Perinatology, Vol. 33, No. 2, 01.02.2013, p. 157-160.

Research output: Contribution to journalArticle

Gillett, E. S. ; Deutsch, G. H. ; Bamshad, M. J. ; Mcadams, R. M. ; Mann, Paul C. / Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate. In: Journal of Perinatology. 2013 ; Vol. 33, No. 2. pp. 157-160.
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