A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reducd GH1 expression in siblings with isolated GH deficiency (IGHD) - Madeira, João L. O.; Jorge, Alexander Augusto de Lima; Martin, Regina M; Montenegro, Luciana Ribeiro; Franca, Marcela M.; Costalong, Everlayny F.; Correa, Fernanda A.; Otto, Aline P.; Arnhold, Ivo J. P; Freitas, Helayne S; Machado, Ubiratan Fabres; Mendonça, Berenice Bilharinho de; et al. (European journal of endocrinology, 2016)