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Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window

1 Jan 2024

Abstract excerpt

Abstract Background ELP1 pathogenic variants (PV) have been recently identified as the most frequent variants predisposing to Sonic Hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for genetic counseling in this new syndrome. Methods We retrospectively reviewed clinical and genetic data of a French series of 29 ELP1-mutated MB. Results All patients developed SHH-MB, with a biallelic...

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PMID: 38962751
DOI: 10.1093/noajnl/vdae075

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