Linked Life Data

20553196

Source:http://linkedlifedata.com/resource/pubmed/id/20553196

Statements in which the resource exists.
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pubmed-article:20553196pubmed:abstractTextCongenital central hypothyroidism (CCH) is a rare condition that is often diagnosed in late childhood in countries where neonatal screening programs rely solely on detecting thyrotropin (TSH) elevation. TSHbeta gene mutation is one of the causes of CCH. We describe two cases of c.Q49X mutation and three cases of c.C105Vfs114X mutation in exon 3 of the TSH beta-subunit gene.lld:pubmed
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pubmed-article:20553196pubmed:articleTitleNew cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screening.lld:pubmed
pubmed-article:20553196pubmed:affiliationCentre des Maladies Endocriniennes Rares de la Croissance, Hôpital Necker Enfants-Malade, Assistance Publique-Hôpitaux de PARIS, Institut National de la Santé et de la Recherche Médicale U845 and Pediatric Endocrine Unit, Université Paris Descartes, Paris, France.lld:pubmed
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