Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma

Pediatr Blood Cancer. 2020 Nov;67(11):e28376. doi: 10.1002/pbc.28376. Epub 2020 Aug 3.

Authors

Sara Ferreira Pires¹, Giovanna Cantini Tolezano¹, Silvia Souza da Costa¹, Rachel Sayuri Honjo Kawahira², Chong Ae Kim², Carla Rosenberg¹, Anne Caroline Barbosa Teixeira¹, Debora Romeo Bertola^{1

2}, Ana Cristina Victorino Krepischi¹

Affiliations

¹ Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
² Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

PMID: 32748512
DOI: 10.1002/pbc.28376

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Child, Preschool
Female
Haploinsufficiency*
Humans
Methyltransferases / genetics*
Mutation*
Neuroblastoma / genetics
Neuroblastoma / pathology*
Neurodevelopmental Disorders / genetics
Neurodevelopmental Disorders / pathology*
Prognosis

Substances

Methyltransferases
SETD5 protein, human