Differences/Disorders of Sex Development: Genetics

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

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

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Yearbook of Paediatric Endocrinology 2020

6. Differences/Disorders of Sex Development and Transgender Medicine

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Differences/Disorders of Sex Development: Basic Research

Table of contents

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Differences/Disorders of Sex Development: Clinical Studies

ey0017.6-7 | Differences/Disorders of Sex Development: Genetics

6.7. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: Bioinformatics consideration

ey0017.6-8 | Differences/Disorders of Sex Development: Genetics

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

ey0017.6-9 | Differences/Disorders of Sex Development: Genetics

6.9. Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

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