A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD)

Context Mutations in the GH1 promoter are a rare cause of isolated growth hormone deficiency (IGHD). Objective To identify the molecular aetiology of a family with IGHD. Design DNA sequencing, electromobility shift (EMSA) and luciferase reporter assays. Setting University Hospital. Patients Three si...

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Veröffentlicht in:	European journal of endocrinology 2016-08, Vol.175 (2), p.K7-K15
Hauptverfasser:	Madeira, João L O, Jorge, Alexander A L, Martin, Regina M, Montenegro, Luciana R, Franca, Marcela M, Costalonga, Everlayny F, Correa, Fernanda A, Otto, Aline P, Arnhold, Ivo J P, Freitas, Helayne S, Machado, Ubiratan F, Mendonca, Berenice B, Carvalho, Luciani R
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alleles Case Report Dwarfism, Pituitary - genetics Female Genotype Homozygote Human Growth Hormone - genetics Humans Male Pedigree Point Mutation Promoter Regions, Genetic Siblings
Online-Zugang:	Volltext
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