Article
A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis.
Molecular human reproduction - 1 Nov 2005
Canto P, Vilchis F, Söderlund D, Reyes E, Méndez J P
Abstract excerpt
Aetiology of mixed gonadal dysgenesis (MGD) has not been completely elucidated. Molecular analyses have failed to demonstrate the presence of mutations in sex-determining region on Y chromosome (SRY); it has been suggested that these individuals may bear mutations in other genes involved in the testis-determining pathway. Desert hedgehog's (DHH) importance regarding male sex differentiation has been demonstrated...
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