Basic and Genetic Research of DSD

ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2022

6. DSD and Gender Incongruence

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Co-morbidities associated with DSD

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Controversies on the timing of genital surgery in individuals with DSD

ey0019.6-5 | Basic and Genetic Research of DSD

6.5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

ey0019.6-6 | Basic and Genetic Research of DSD

6.6. Expanding DSD phenotypes associated with variants in the DEAH-box RNA helicase DHX37

ey0019.6-7 | Basic and Genetic Research of DSD

6.7. MAP3K1 variant causes hyperactivation of Wnt4/[beta]-catenin/FOXL2 signaling contributing to 46,XY disorders/differences of sex development

ey0019.6-8 | Basic and Genetic Research of DSD

6.8. Targeting the non-coding genome for the diagnosis of disorders of sex development

ey0019.6-9 | Basic and Genetic Research of DSD

6.9. Whole exome sequencing reveals copy number variants in individuals with disorders of sex development

ey0019.6-10 | Basic and Genetic Research of DSD

6.10. Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46, XY differences of sex development

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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ESPE Yearbook of Paediatric Endocrinology