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Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.

par Vilain, Catheline ;Rydlewski, C.;Duprez, Laurence ;Heinrichs, Claudine ;Abramowicz, Marc ;Malvaux, P;Renneboog, Benoît ;Parma, Jasmine ;Costagliola, Sabine ;Vassart, Gilbert
Référence The Journal of clinical endocrinology and metabolism, 86, 1, page (234-238)
Publication Publié, 2001-01

Article révisé par les pairs

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Titre:	Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.
Auteur:	Vilain, Catheline; Rydlewski, C.; Duprez, Laurence; Heinrichs, Claudine; Abramowicz, Marc; Malvaux, P; Renneboog, Benoît; Parma, Jasmine; Costagliola, Sabine; Vassart, Gilbert
Informations sur la publication:	The Journal of clinical endocrinology and metabolism, 86, 1, page (234-238)
Statut de publication:	Publié, 2001-01
Sujet CREF:	Sciences bio-médicales et agricoles
MeSH keywords:	Adult
	Amino Acid Sequence -- genetics
	Base Sequence -- genetics
	Congenital Hypothyroidism
	DNA-Binding Proteins -- genetics
	DNA-Binding Proteins -- physiology
	Female
	Genes, Dominant
	Humans
	Hypothyroidism -- genetics
	Infant
	Molecular Sequence Data
	Mutation -- physiology
	Nuclear Proteins
	Paired Box Transcription Factors
	Thyroid Diseases -- complications
	Thyroid Diseases -- congenital
	Thyroid Diseases -- genetics
	Thyroid Diseases -- physiopathology
	Thyroid Gland -- abnormalities
	Trans-Activators -- genetics
	Trans-Activators -- physiology
Note générale:	Case Reports
	Journal Article
	Research Support, Non-U.S. Gov't
	SCOPUS: ar.j
Langue:	Anglais
Identificateurs:	urn:issn:0021-972X
	info:doi/10.1210/jc.86.1.234
	info:scp/17744381340
	info:pmid/11232006