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Article

3-Year-old phenotypic female with campomelic dysplasia and bilateral gonadoblastoma.

Journal of pediatric surgery - 1 Dec 1995

Hong J R, Barber M, Scott C I, Guttenberg M, Wolfson P J

Abstract excerpt

The authors report the case of bilateral gonadoblastomas in a phenotypic female, with a 46,XY karyotype, with campomelic dysplasia. Although campomelic dysplasia with gonadal dysgenesis should be expected to contribute to an increased risk of gonadoblastoma, this is the first documented case report of campomelic dysplasia and gonadoblastoma. Phenotypic females with campomelic dysplasia should be karyotyped once...

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Identifiers

PMID: 8749940
DOI: 10.1016/0022-3468(95)90468-9

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