FBXO28is a critical gene of the 1q41q42 microdeletion syndrome
Author:
Affiliation:
1. Clinical Genetics Unit, Department of Women's and Children's Health; University of Padova; Padova Italy
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37033/fullpdf
Reference4 articles.
1. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures;Au;Am J Med Genet Part A,2014
2. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome;Rosenfeld;Eur J Med Genet,2011
3. The discovery of microdeletion syndromes in the post-genomic era: Review of the methodology and characterization of a new 1q41q42 microdeletion syndrome;Shaffer;Genet Med,2007
4. Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A;Vecchi;Seizure,2011
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2. 3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay;Genes;2023-08-25
3. Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability;Genes;2022-05-02
4. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome;The American Journal of Human Genetics;2022-04
5. Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects;Taiwanese Journal of Obstetrics and Gynecology;2021-03
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