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Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.

Pediatric blood & cancer - 1 Nov 2020

Pires Sara Ferreira, Tolezano Giovanna Cantini, da Costa Silvia Souza, Kawahira Rachel Sayuri Honjo, Kim Chong Ae, Rosenberg Carla, Teixeira Anne Caroline Barbosa, Bertola Debora Romeo, Krepischi Ana Cristina Victorino

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PMID: 32748512
DOI: 10.1002/pbc.28376

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Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).Semantic proximity Read ↗

Clinical Insights Into a Rare SETD2 Disorder: Report of a Novel Variant.Semantic proximity Read ↗

A Novel Epilepsy Phenotype in a Young Girl With a Pathogenic SETD5 Gene Variant.Semantic proximity Read ↗

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