Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.
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Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.
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A missense mutation of the Dhh gene is associated with male pseudohermaphroditic rats showing impaired Leydig cell development.
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Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.
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Clinical, genetic, and pathological features of male pseudohermaphroditism in dog.
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Recognition of 5alpha-reductase-2 deficiency in an adult female 46XY DSD clinic.
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Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
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Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.
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