TADOKORO-CUCCARO, RIEKO; HUGHES, IEUAN A; COOLS, MARTINE; VAN DE VIJVER, KOEN; REY, RODOLFO; LOPEZ DACAL, JIMENA; THANKAMONY, AJAY

Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis

JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Año: 2025

LOURDES CORREA BRITO ; ROMINA P. GRINSPON; JIMENA LOPEZ DACAL ; PAULA SCAGLIA ; MARÍA ESNAOLA AZCOITI ; AGUSTÍN IZQUIERDO ; MARÍA GABRIELA ROPELATO ; RODOLFO A. REY

Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development

journal of personalized medicine; Lugar: Basel; Año: 2023 vol. 13