Article

Germline PDGFRB p.R987W pathogenic variant in two children with brain tumors

2022-11-04

Abstract excerpt

Platelet-Derived Growth Factor Receptor Beta (PDGFRB) is critically implicated in development. Germline pathogenic variants (GPVs) in PDGFRB result in several distinct inherited syndromes including primary familial brain calcifications (PFBC) and infantile myofibromatosis. To date, GPVs in PDGFRB have not been identified in children with brain tumors. Here, we describe the clinicopathological features of a 9-yea...

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Literature Corpus work: 05e308a5-9784-51a6-b3ee-27fa1a25f3e0
DOI: 10.22541/au.166756160.06302359/v1

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