Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability

Congenital neurological disorders are genetically highly heterogeneous. Rare forms of hereditary neurological disorders are still difficult to be adequately diagnosed. Pertinent studies, especially when reporting only single families, need independent confirmation. We present three unrelated familie...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Bertoli-Avella, Aida M., Garcia-Aznar, Jose M., Brandau, Oliver, Al-Hakami, Fahad, Yüksel, Zafer, Marais, Anett, Grüning, Nana-Maria, Abbasi Moheb, Lia, Paknia, Omid, Alshaikh, Nahla, Alameer, Seham, Marafi, Makia J., Al-Mulla, Fahd, Al-Sannaa, Nouriya, Rolfs, Arndt, Bauer, Peter
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer International Publishing 2018
Konular:
Brief Communication
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5891495/
https://ncbi.nlm.nih.gov/pubmed/29449720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0097-3
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller