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...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Ann Rehabil Med
Main Authors: Shim, Jae Sun, Min, Kyunghoon, Lee, Seung Hoon, Park, Ji Eun, Park, Sang Hee, Kim, MinYoung, Shim, Sung Han
Format: Artigo
Jezik:Inglês
Izdano: Korean Academy of Rehabilitation Medicine 2015
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4496521/
https://ncbi.nlm.nih.gov/pubmed/26161356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5535/arm.2015.39.3.482
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