| Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate. | |
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MedLine Citation:
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PMID: 23361500 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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We report a case of lethal neonatal hypoxic respiratory failure and hypothyroidism in an infant with a novel missense mutation in NKX2.1. |
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Authors:
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E S Gillett; G H Deutsch; M J Bamshad; R M McAdams; P C Mann |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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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:
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Created Date: 2013-01-30 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8501884 Medline TA: J Perinatol Country: United States |
Other Details:
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Languages: eng Pagination: 157-60 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Division of Neonatology, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, WA, USA. |
Export Citation:
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Descriptor/Qualifier:
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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