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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Detalles Bibliográficos
Autores principales: Tung, Yiehen, Lu, Haiying, Lin, Wenxin, Huang, Tingting, Kim, Samuel, Hu, Guo, Zhang, Gang, Zheng, Guo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
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

Internet

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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