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Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Madeira JL, Nishi MY, Nakaguma M, Benedetti AF, Biscotto IP, Fernandes T, Pequeno T, Figueiredo T, Franca MM, Correa FA, Otto AP, Abrão M, Miras MB, Santos S, Jorge AA, Costalonga EF, Mendonca BB, Arnhold IJ, Carvalho LR. Madeira JL, et al. Clin Endocrinol (Oxf). 2017 Dec;87(6):725-732. doi: 10.1111/cen.13430. Epub 2017 Sep 4. Clin Endocrinol (Oxf). 2017. PMID: 28734020
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.
Ferreira NGBP, Madeira JLO, Gergics P, Kertsz R, Marques JM, Trigueiro NSS, Benedetti AFF, Azevedo BV, Fernandes BHV, Bissegatto DD, Biscotto IP, Fang Q, Ma Q, Ozel AB, Li J, Camper SA, Jorge AAL, Mendonça BB, Arnhold IJP, Carvalho LR. Ferreira NGBP, et al. Among authors: madeira jlo. Endocr Connect. 2023 Jul 5;12(8):e220473. doi: 10.1530/EC-22-0473. Endocr Connect. 2023. PMID: 37166408 Free PMC article.
26 results