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A Novel 2q37 Microdeletion Containing Human Neural Progenitors Genes Including STK25 Results in Severe Developmental Delay, Epilepsy, and Microcephaly

2q37 microdeletion syndrome is a rare syndrome characterized by neurodevelopmental delay, bone, cardiovascular, and neurological alterations. This syndrome is typically associated with loss of genetic material of approximately 100 genes in the 2q37 band. However, the genes associated with neurodevel...

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Bibliografske podrobnosti
izdano v:Am J Med Genet A
Main Authors: Imitola, Jaime, Khurana, Divya S., Teplyuk, Nadiya M., Zucker, Mark, Jethva, Reena, Legido, Agustin, Krichevsky, Ana M., Frangieh, Michael, Walsh, Christopher A., Carvalho, Karen S.
Format: Artigo
Jezik:Inglês
Izdano: 2015
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC8011536/
https://ncbi.nlm.nih.gov/pubmed/26238961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37268
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