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Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes

Hmg Box N65hDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGeneticsNovel MutationsGenetic MechanismMolecular GeneticsMedicineSry Dna-binding Activity