Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and <i>GNAS</i> imprinting defects
Beatriz Lecumberri(Hospital Universitario La Paz), Murat Bastepe(Brigham and Women's Hospital), Eduardo Fernández‐Rebollo(Hospital de Cruces), Ana Bernal‐Chico(Hospital de Cruces), Guiomar Pérez de Nanclares(Hospital Universitario Araba), M. de Jesús Gallegos Santiago(Hospital Universitario La Paz), Luís Felipe Pallardo(Hospital Universitario La Paz), José María Jiménez Bustos(Hospital Universitario de Guadalajara), Pedro Saavedra(Hospital Universitario de Guadalajara), Luís Castaño(University of the Basque Country), Lucia Sentchordi(Hospital Universitario de Guadalajara), Olaf Hiort(University of Lübeck)
Cited by 38
Related Papers
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
|Nature Reviews Endocrinology|2018|346
Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients
|Endocrine Related Cancer|2015|204
Satisfaction with Genital Surgery and Sexual Life of Adults with XY Disorders of Sex Development: Results from the German Clinical Evaluation Study
|The Journal of Clinical Endocrinology & Metabolism|2011|178
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network
|European Journal of Endocrinology|2016|174
GLUT1 deficiency and other glucose transporter diseases
|European Journal of Endocrinology|2004|145