Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 1, 2009, Pages 197-203

  Maquet, Emilie ^a   Costagliola, Sabine ^a   Parma, Jasmine ^a   Christophe Hobertus, Christiane ^a   Oligny, Luc L ^b   Fournet, Jean Christophe ^b   Robitaille, Yves ^b   Vuissoz, Jean Marc ^c   Payot, Antoine ^b   Laberge, Sophie ^b   Vassart, Gilbert ^a   Van Vliet, Guy ^b   Deladoëy, Johnny ^b  

^a UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^b UNIVERSITY OF MONTREAL   (Canada)

^c Spitalzentrum Oberwallis   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; SURFACTANT; THYROID TRANSCRIPTION FACTOR 1; THYROTROPIN; THYROXINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NKX2 1; UNCLASSIFIED DRUG; VASODILATOR AGENT;

ACUTE RESPIRATORY FAILURE; APGAR SCORE; ARTICLE; ARTIFICIAL VENTILATION; BIRTH WEIGHT; CANADA; CASE REPORT; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA BINDING; DNA SEQUENCE; FEMALE; FRANCE; GENE; GENE MUTATION; GIRL; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HYPOTHYROIDISM; IMMUNOHISTOCHEMISTRY; LUNG PARENCHYMA; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; NEWBORN DEATH; NEWBORN SCREENING; PARENT; PRIORITY JOURNAL; PULMONARY HYPERTENSION; TERM BIRTH; THYROID TRANSCRIPTION FACTOR 1 GENE; THYROTROPIN BLOOD LEVEL; TRANSACTIVATION; TRANSCRIPTION FACTOR NKX2 1 GENE;

MUS;

EID: 58149373950     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-1402     Document Type: Article

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