Keyphrases
Duplication
100%
Exon 3
100%
Novel Types
100%
Genetic Defects
100%
Hydroxysteroid Dehydrogenase
100%
HSD17B3
100%
Compound Heterozygous mutation
33%
Cypriot
16%
Quantitative PCR
16%
Patient-centered
16%
At Birth
16%
Gonadotropins
16%
Stimulation Test
16%
Clinical Features
16%
Sequence Analysis
16%
Missense mutation
16%
Genetic Features
16%
Young Males
16%
Genetic Counseling
16%
Chromosomal Microarray
16%
Biochemical Detection
16%
Genetic Analysis
16%
XY Karyotype
16%
46,XY
16%
Ambiguous Genitalia
16%
Non-consanguineous
16%
Inguinal Canal
16%
Gonad
16%
Consanguineous Parents
16%
Human Chorionic Gonadotropin
16%
46,XY Disorders of Sex Development
16%
Hypospadias
16%
Biochemical Features
16%
Pelvic Ultrasound
16%
Surgical Correction
16%
Large Duplication
16%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Exon
100%
Hydroxysteroid Dehydrogenase
100%
HSD17B3 (Gene)
100%
Intron
33%
Compound Heterozygosity
33%
Real-Time Polymerase Chain Reaction
16%
Multiplex Ligation-Dependent Probe Amplification
16%
Missense Mutation
16%
Genetic Counseling
16%
Protein Sequencing
16%
Karyotype 46,XY
16%
Human Chorionic Gonadotropin
16%