Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

Daniel G. Calame, Somayeh Bakhtiari, Rachel Logan, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Jawid M. Fatih, Jill V. Hunter, Isabella Herman, Davut Pehlivan, Shalini N. Jhangiani, Richard Person, Rhonda E. Schnur, Sheng Chih Jin, Kaya Bilguvar, Jennifer E. Posey, Sookyong Koh, Saghar G. Firouzabadi, Elham Alehabib, Abbas TafakhoriSahra Esmkhani, Richard A. Gibbs, Mahmoud M. Noureldeen, Maha S. Zaki, Dana Marafi, Hossein Darvish, Michael C. Kruer, James R. Lupski

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Fingerprint

Dive into the research topics of 'Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy'. Together they form a unique fingerprint.

Medicine & Life Sciences