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Human Disease

46,XX sex reversal 2

Term ID
DOID:0111763
Synonyms
  • chromosome 17q24 dupication syndrome
  • SRXX2
Definition
A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. (2)
References
Ontology
Human Disease   ( DOID:0111763 )
Relationships
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Genes Involved
Zebrafish Models
Citations