Original Article

Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort
  • Maria Sol Touzon
  • Natalia Perez Garrido
  • Roxana Marino
  • Pablo Ramirez
  • Mariana Costanzo
  • Gabriela Guercio
  • Esperanza Berensztein
  • Marco A. Rivarola
  • Alicia Belgorosky
J Clin Res Pediatr Endocrinol 2019; 11: 24-33 DOI: 10.4274/jcrpe.galenos.2018.2018.0185 PMID:30251955

Original Research

Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency
  • Erdal Eren
  • Tuba Edgünlü
  • Emre Asut
  • Sevim Karakaş Çelik
J Clin Res Pediatr Endocrinol 2016; 8: 218-223 DOI: 10.4274/jcrpe.2495 PMID:26761946

Case Report

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene
  • Ayfer Alikaşifoğlu
  • Doğuş Vurallı
  • Olaf Hiort
  • Nazlı Gönç
  • Alev Özön
  • Nurgün Kandemir
J Clin Res Pediatr Endocrinol 2015; 7: 249-252 DOI: 10.4274/jcrpe.2069 PMID:26831562

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