van Jaarsveld RH et al.Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. Genet Med. 2023;25(1):49-62. PMID: 36322151.
Several papers described larger chromosomal deletions which include the KDM2B gene, for example:
Chouery E et al. Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father. Mol Syndromol. 2013;4(3):136-142. PMID: 23653585.
Baple E et al. A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally. Mol Syndromol. 2010;1(1):42-5. PMID: 20648245.
Bhatia NS et al.Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature. Clin Dysmorphol. 2019;28(1):53-56. PMID: 30507726.
Krzyzewska IM et al.A genome-wide DNA methylation signature for SETD1B-related syndrome. Clin Epigenetics. 2019;11(1):156. PMID: 31685013.
Labonne JDJ. An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.Hum Genet. 2016;135(7):757-771. PMID: 27106595.
Verhoeven WM et al.A 12q24.31 interstitial deletion in an adult male with MODY3: neuropsychiatric and neuropsychological characteristics. Am J Med Genet A. 2015;167A(1):169-73. PMID: 25425063.
KDM2B