Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes.


Yoldaş Çelik M., Köşeci B., Burgaç E., Garip S., Varol F. I., Güngör Ş., ...Daha Fazla

Journal of pediatric endocrinology & metabolism : JPEM, 2025 (SCI-Expanded) identifier