Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2023
|
| Materias: | |
| 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 |