3′ UTR Deletion of FBXO28 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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Detalles Bibliográficos
Autores principales: Bi, Xin, Mulhern, Maureen S., Spiegel, Erica, Wapner, Ronald J., Levy, Brynn, Bain, Jennifer M., Liao, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530825/
https://www.ncbi.nlm.nih.gov/pubmed/37761828
http://dx.doi.org/10.3390/genes14091687

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530825/
https://www.ncbi.nlm.nih.gov/pubmed/37761828
http://dx.doi.org/10.3390/genes14091687

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