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MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report
Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of...
Autores principales: | Shim, Jae Sun, Min, Kyunghoon, Lee, Seung Hoon, Park, Ji Eun, Park, Sang Hee, Kim, MinYoung, Shim, Sung Han |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korean Academy of Rehabilitation Medicine
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496521/ https://www.ncbi.nlm.nih.gov/pubmed/26161356 http://dx.doi.org/10.5535/arm.2015.39.3.482 |
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