CNP deficiency causes severe hypomyelinating leukodystrophy in humans
Lama AlAbdi, Fathiya Al Murshedi, Alaa Elmanzalawy, Asila Al Habsi, Rana Helaby, Anuradha Ganesh, Niema Ibrahim, Nisha Patel, Fowzan S. Alkuraya
Topics & Concepts
BiologyLeukodystrophyMyelinPhenotypeWhite matterMissense mutationGeneticsAlleleMultiple sclerosisAtaxiaExomeExome sequencingPathologyNeuroscienceImmunologyGeneCentral nervous systemDiseaseMedicineMagnetic resonance imagingRadiologyRNA regulation and diseaseRNA Research and SplicingRNA modifications and cancer