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

par Maquet, Emilie ;Costagliola, Sabine ;Parma, Jasmine ;Hobertus, Christiane ;Oligny, L L;Fournet, Jean-Christophe;Robitaille, Yves;Vuissoz, Jean-Marc;Payot, Antoine;Laberge, Sophie;Vassart, Gilbert ;Van Vliet, G.;Deladoëy, Johnny
Référence The Journal of clinical endocrinology and metabolism, 94, 1, page (197-203)
Publication Publié, 2009-01

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Titre:	Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene.
Auteur:	Maquet, Emilie; Costagliola, Sabine; Parma, Jasmine; Hobertus, Christiane; Oligny, L L; Fournet, Jean-Christophe; Robitaille, Yves; Vuissoz, Jean-Marc; Payot, Antoine; Laberge, Sophie; Vassart, Gilbert; Van Vliet, G.; Deladoëy, Johnny
Informations sur la publication:	The Journal of clinical endocrinology and metabolism, 94, 1, page (197-203)
Statut de publication:	Publié, 2009-01
Sujet CREF:	Sciences bio-médicales et agricoles
MeSH keywords:	Amino Acid Sequence
	Animals
	COS Cells
	Cercopithecus aethiops
	DNA -- metabolism
	Female
	Heterozygote
	Humans
	Hypothyroidism -- genetics
	Immunohistochemistry
	Infant, Newborn
	Molecular Sequence Data
	Mutation
	Nuclear Proteins -- chemistry
	Nuclear Proteins -- genetics
	Respiratory Insufficiency -- genetics
	Sequence Analysis, DNA
	Transcription Factors -- chemistry
	Transcription Factors -- genetics
	Transcriptional Activation
Note générale:	Case Reports
	Journal Article
	Research Support, Non-U.S. Gov't
Langue:	Anglais
Identificateurs:	urn:issn:0021-972X
	info:doi/10.1210/jc.2008-1402
	info:pii/jc.2008-1402
	info:scp/58149373950
	info:pmid/18957494