Associated Papers
Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.
Gonçalves CI et al.
International Journal of Molecular Sciences, 2022
36077423 (PubMed )
Supplement: ijms-23-10026-s001.zip › ijms-1813632-supplementary.pdf
The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency.
George MM et al.
Hormone Research in Paediatrics, 2010
Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency.
Faienza MF et al.
Journal of Endocrinological Investigation, 2008
Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls.
Lee YS et al.
Clinical Endocrinology, 2007
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