PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature

Developmental encephalopathies constitute a broad and genetically heterogeneous spectrum of disorders associated with global developmental delay, intellectual disability, frequent epilepsy, and other neurofunctional abnormalities. Here, we report a male presenting with infantile onset epilepsy and s...

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Udgivet i:Am J Med Genet A
Main Authors: Park, Kaylee, Seltzer, Laurie E., Tuttle, Emily, Mirzaa, Ghayda M., Paciorkowski, Alex R.
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5878136/
https://ncbi.nlm.nih.gov/pubmed/28464511
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38236
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