Associated Papers
[Clinical, hormonal and molecular genetic characteristics of patients with 46,XY disorders of sex development associated with variants in the HSD17B3 gene].
Kalinchenko NY et al.
Problemy Endokrinologii, 2024
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
Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).
Luna SE et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2021
Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients.
Engeli RT et al.
The Journal of Sexual Medicine, 2017
Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.
Ben Rhouma B et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.
Engeli RT et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2016
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