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Article

Sex-Determining Gene(s) on Distal 9p: Clinical and Molecular Studies in Six Cases*

1 Sept 2000

Abstract excerpt

We report on clinical and molecular findings in five karyotypic males (cases 1-5) and one karyotypic female (case 6) with distal 9p monosomy. Cases 1-3 and 6 had female external genitalia, case 4 showed ambiguous external genitalia, and case 5 exhibited male external genitalia with left cryptorchidism and right intrascrotal testis. Gonadal explorations at gonadectomy in cases 3 and 4 revealed that case 3 had left...

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Identifiers

PMID: 10999792
DOI: 10.1210/jcem.85.9.6771

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