Article
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.
American journal of medical genetics. Part A - 1 Nov 2015
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
Abstract excerpt
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 neurodevelopmental phenotype in this syndrome are still unknown. We identified a deleted region of 496 kb by whole genome...
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