The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome

Am J Med Genet A. 2016 Nov;170(11):3041-3042. doi: 10.1002/ajmg.a.37753. Epub 2016 May 17.

Authors

Laura Papetti¹, Livia Schettini¹, Giacomo Garone¹, Elena Gennaro², Michela Malacarne², Enrico Properzi¹, Alberto Spalice³

Affiliations

¹ Division of Child Neurology, Department of Pediatrics, Sapienza University of Rome, Rome, Italy.
² Laboratory of Genetics, E.O. Ospedali Galliera, Genova, Italy.
³ Division of Child Neurology, Department of Pediatrics, Sapienza University of Rome, Rome, Italy. childneurology.sapienzaroma@live.it.

PMID: 27184008
DOI: 10.1002/ajmg.a.37753

No abstract available

Publication types

Case Reports
Letter

MeSH terms

3' Untranslated Regions
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Comparative Genomic Hybridization
Electroencephalography
F-Box Proteins / genetics*
Female
Humans
Real-Time Polymerase Chain Reaction
Syndrome

Substances

3' Untranslated Regions
F-Box Proteins