Article

Germline 16p11.2 microdeletion predisposing to neuroblastoma: A Case report

2024-01-31

Abstract excerpt

Familial neuroblastoma is an extremely rare entity with only 1 – 2% of neuroblastoma cases thought to have a familial inheritance, mainly due to PHOX2B and ALK germline mutations. 16p11.2 microdeletion syndrome has been reported to be associated with neuroblastoma. We present the first case report of a patient presenting with metastatic neuroblastoma, developmental delay, and atypical facies, in whom we identified...

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Literature Corpus work: 76b0195c-fbe5-574a-9063-3ccc8b0ff654
DOI: 10.22541/au.170669140.02179436/v1

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