Document Detail

Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate.
MedLine Citation:
PMID:  23361500     Owner:  NLM     Status:  In-Data-Review    
We report a case of lethal neonatal hypoxic respiratory failure and hypothyroidism in an infant with a novel missense mutation in NKX2.1.
E S Gillett; G H Deutsch; M J Bamshad; R M McAdams; P C Mann
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of perinatology : official journal of the California Perinatal Association     Volume:  33     ISSN:  1476-5543     ISO Abbreviation:  J Perinatol     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8501884     Medline TA:  J Perinatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  157-60     Citation Subset:  IM    
Department of Pediatrics, Division of Neonatology, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, WA, USA.
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