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Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay
Objective: 1q44 microdeletion syndrome is difficult to diagnose due to the wide phenotypic spectrum and strong genetic heterogeneity. We explore the correlation between the chromosome microdeletions and phenotype in a child with 1q44 microdeletion syndrome, we collected the clinical features of the...
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| Publicat a: | Front Genet |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8173053/ https://ncbi.nlm.nih.gov/pubmed/34093647 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.648351 |
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