Article
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Clinical endocrinology - 1 Dec 2017
Madeira Joao Lo, Nishi Mirian Y, Nakaguma Marilena, Benedetti Anna F, Biscotto Isabela Peixoto, Fernandes Thamiris, Pequeno Thiago, Figueiredo Thalita, Franca Marcela M, Correa Fernanda A, Otto Aline P, Abrão Milena, Miras Mirta B, Santos Silvana, Jorge Alexander Al, Costalonga Everlayny F, Mendonca Berenice B, Arnhold Ivo Jp, Carvalho Luciani R
Abstract excerpt
BACKGROUND: Mutations in PROP1, HESX1 and LHX3 are associated with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP). OBJECTIVE: To identify mutations in PROP1, HESX1 and LHX3 in a large cohort of patients with CPHD and OPP (35 Brazilian, two Argentinian). DESIGN AND METHODS: We studied 23 index patients with CPHD and OPP (six familial and 17 sporadic) as well as 14...
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