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Article

Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome.

American journal of medical genetics. Part A - 1 Oct 2012

Thomas Martha, Enciso Victoria, Stratton Robert, Shah Shafqat, Winder Thomas, Tayeh Marwan, Roeder Elizabeth

Abstract excerpt

We describe the case of a 12-year-old Hispanic male with a clinical and molecular diagnosis of Simpson-Golabi-Behmel Syndrome (SGBS) who subsequently developed metastatic medulloblastoma. While individuals with SGBS have been documented to have increased risk for intra-abdominal tumors such as Wilms tumor and neuroblastoma, medulloblastomas, or CNS tumors in general, have not been reported in patients with this...

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Identifiers

PMID: 22893378
DOI: 10.1002/ajmg.a.35284

Genes

GPC3

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