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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...
Autores principales: | Tung, Yiehen, Lu, Haiying, Lin, Wenxin, Huang, Tingting, Kim, Samuel, Hu, Guo, Zhang, Gang, Zheng, Guo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173053/ https://www.ncbi.nlm.nih.gov/pubmed/34093647 http://dx.doi.org/10.3389/fgene.2021.648351 |
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