Associated Papers
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Nøstvik M et al.
Clinical Genetics, 2021
Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Froukh T et al.
Clinical Genetics, 2020
Compound heterozygous mutations in PUS3 gene identified in a Chinese infant with severe epileptic encephalopathy and multiple malformations.
Fang H et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease.
Abdelrahman HA et al.
Clinical Genetics, 2018
Select a paper to view details