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
46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report
Çiftci N et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
Mazen I et al.
American Journal of Medical Genetics. Part A, 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
Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.
Özen S et al.
Hormone Research in Paediatrics, 2017
Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency.
Hassan HA et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
Select a paper to view details