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Thesis

Study of sex determination in mice lacking candidate genes identified by human exome sequencing

Abstract:

Disorders of sex development (DSD) comprise a heterogeneous group of conditions in which human sex development is atypical. The research described in this thesis aims at improving our understanding of DSDs, in particular those characterised by abnormal gonad development (gonadal dysgenesis, GD), using the mouse as a model of human sex development. I discuss four genes (TLE3, SEC31A, NCOR2 and ZNRF3) identified by exome sequencing screens of individuals with 46,XY GD and experiments aimed a...

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Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Author

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Supervisor
Role:
Supervisor
ORCID:
0000-0001-5726-7791


DOI:
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford


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