Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy

We report a family with four girls with moderate to severe intellectual disability and epilepsy. Two girls showed regression in adolescence and died of presumed sudden unexpected death in epilepsy at 16 and 22 years. Whole exome sequencing identified a truncating pathogenic variant in IQSEC2 at NM_0...

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Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Ewans, Lisa J, Field, Michael, Zhu, Ying, Turner, Gillian, Leffler, Melanie, Dinger, Marcel E, Cowley, Mark J, Buckley, Michael F, Scheffer, Ingrid E, Jackson, Matilda R, Roscioli, Tony, Shoubridge, Cheryl
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2017
Konular:
Short Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477359/
https://ncbi.nlm.nih.gov/pubmed/28295038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.29
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