FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome

Am J Med Genet A. 2015 Jun;167(6):1418-20. doi: 10.1002/ajmg.a.37033. Epub 2015 Apr 21.

Authors

Matteo Cassina¹, Chiara Rigon¹, Alberto Casarin¹, Virginia Vicenzi¹, Leonardo Salviati¹, Maurizio Clementi¹

Affiliation

¹ Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.

PMID: 25900767
DOI: 10.1002/ajmg.a.37033

No abstract available

Publication types

Case Reports

MeSH terms

Child
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Comparative Genomic Hybridization
Developmental Disabilities / genetics*
Developmental Disabilities / pathology
Exons
Gene Expression
Humans
Male
Oligonucleotide Array Sequence Analysis
SKP Cullin F-Box Protein Ligases / deficiency
SKP Cullin F-Box Protein Ligases / genetics*
Seizures / genetics*
Seizures / pathology
Syndrome

Substances

FBXO28 protein, human
SKP Cullin F-Box Protein Ligases