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

João L. O. Madeira Alexander Augusto de Lima Jorge; Regina M Martin; Luciana Ribeiro Montenegro; Marcela M Franca; Everlayny F Costalong; Fernanda A Correa; Aline P Otto; Ivo J. P Arnhold; Helayne S Freitas; Ubiratan Fabres Machado; Berenice Bilharinho de Mendonça; Luciani R Carvalho

European journal of endocrinology Oslo v. 175, n. 02, p. K7-K15, 2016

Oslo 2016

Acesso online