Tara K Tekkey
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View article: EPCO-56. RARE COMBINATION OF PEDIATRIC POSTERIOR FOSSA EPENDYMOMA GROUP A, CONSTITUTIONAL KMT2D ALA2497VAL VARIANT AND CONGENITAL SOLITARY KIDNEY
EPCO-56. RARE COMBINATION OF PEDIATRIC POSTERIOR FOSSA EPENDYMOMA GROUP A, CONSTITUTIONAL KMT2D ALA2497VAL VARIANT AND CONGENITAL SOLITARY KIDNEY Open
Ependymoma in children is rarely associated with pathogenic germline variants. We describe co-occurrence of posterior fossa group A ependymoma, constitutional KMT2D (MLL2) variant of unknown clinical significance (VUS), and congenital soli…