Article
Cosegregation of a novel mutation in the sixth transmembrane segment of the luteinizing/choriogonadotropin hormone receptor with two Brazilian siblings with severe testotoxicosis.
Endocrine research - 1 May 2017
Siviero-Miachon Adriana A, Kizys Marina M L, Ribeiro Manuela M, Garcia Fabiola Esgrignoli, Spinola-Castro Angela M, Dias da Silva Magnus R
Abstract excerpt
PURPOSE: Testotoxicosis is an autosomal dominant form of gonadotropin-independent precocious puberty caused by heterozygous constitutively activating mutations of the luteinizing hormone/choriogonadotropin receptor (LHCGR) gene. The aim of this study was to describe two Brazilian siblings with testotoxicosis, to confirm the molecular diagnosis, and to perform an in silico analysis of a novel mutation in the hot...
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