Clinical and Molecular Insights into SF1 Deficiency

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

An indispensable reference tool endorsed by the European Society for Paediatric Endocrinology

Previous issue | Volume 21 | ESPEYB21

Yearbook of Paediatric Endocrinology 2024

6. Differences of Sexual Development (DSD) and Gender Incongruence (GI)

Previous section
DSD - Novel Genes and Mechanisms involved in Gonadal Development

Table of contents

Next section
New Clinical Insights into Klinefelter Syndrome

ey0021.6-5 | Clinical and Molecular Insights into SF1 Deficiency

6.5. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1 /SF-1 variants of sex development

ey0021.6-6 | Clinical and Molecular Insights into SF1 Deficiency

6.6. A conserved NR5A1-responsive enhancer regulates SRY in testis-determination

ey0021.6-7 | Clinical and Molecular Insights into SF1 Deficiency

6.7. Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development

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