Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review

por Szabo, Shelagh M., Tomazos, Ioannis C., Petryk, Anna, Powell, Lauren C., Donato, Bonnie M. K., Zarate, Yuri A., Tiulpakov, Anatoly, Martos-Moreno, Gabriel Ángel
Publicado 2019

Pathogenic Variants in RNPC3 are Associated with Hypopituitarism and Primary Ovarian Insufficiency

por Akin, Leyla, Rizzoti, Karine, Gregory, Louise C, Corredor, Beatriz, Le Quesne Stabej, Polona, Williams, Hywel, Buonocore, Federica, Mouilleron, Stephane, Capra, Valeria, McGlacken-Byrne, Sinead M, Martos-Moreno, Gabriel Á, Azmanov, Dimitar N., Kendirci, Mustafa, Kurtoglu, Selim, Suntharalingham, Jenifer P., Galichet, Christophe, Gustincich, Stefano, Tasic, Velibor, Achermann, John C., Accogli, Andrea, Filipovska, Aleksandra, Tuilpakov, Anatoly, Maghnie, Mohamad, Gucev, Zoran, Gonen, Z. Burcin, Pérez-Jurado, Luis A, Robinson, Iain, Badge, Robin Lovell, Argente, Jesús, Dattani, Mehul T
Publicado 2022