3′ UTR Deletion of <i>FBXO28</i> in a Patient with Brain Abnormalities and Developmental Delay

3′ UTR Deletion of <i>FBXO28</i> in a Patient with Brain Abnormalities and Developmental Delay

Constitutional deletions of chromosome 1q42 region are rare. The phenotype spectrum associated with this copy number change is variable, including developmental delay, intellectual disability, seizures, and dysmorphology. This study describes a patient with developmental delays and brain abnormaliti...

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Bibliographic Details
Main Authors: Xin Bi, Maureen S. Mulhern, Erica Spiegel, Ronald J. Wapner, Brynn Levy, Jennifer M. Bain, Jun Liao
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Genes
Subjects:
3′ UTR deletion
brain abnormalities
chromosome 1q42.11 region
developmental delay
<i>FBXO28</i>
Online Access:https://www.mdpi.com/2073-4425/14/9/1687

Internet

https://www.mdpi.com/2073-4425/14/9/1687

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