Endocrinoloxía Pediátrica
Fundación Pública Galega de Medicina Xenómica
Santiago de Compostela, EspañaPublications in collaboration with researchers from Fundación Pública Galega de Medicina Xenómica (2)
2017
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Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene
Hormones, Vol. 16, Núm. 2, pp. 194-199
2008
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Hypochondroplasia and acanthosis nigricans: A new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
European Journal of Endocrinology, Vol. 159, Núm. 3, pp. 243-249