Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report

por Antonella Gambadauro, Giorgia Pepe, Celeste Casto, Angelo Tropeano, Carmelo Romeo, Malgorzata Wasniewska
Publicado 2021

Pseudohypoparathyroidism and its various phenotypes: three sisters with three different clinical presentations

por Fabio Sippelli, Chiara Ferraloro, Giulia Visalli, Giulia Cafarella, Domenico Corica, Malgorzata Wasniewska
Publicado 2021

Tricho-rhino-phalangeal syndrome: a rare case of disharmonious short stature

por Selenia Lorenza Curatola, Silvana Briuglia, Anna Paola Capra, Antonio Novelli, Tommaso Aversa, Malgorzata Wasniewska
Publicado 2021