Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Daniel G. Calame, Simon C. Robson, Asaad Ghanim Jaddoa et al.|Annals of Neurology|2022

Cited by 9