Associated Papers
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.
Manaspon C et al.
American Journal of Medical Genetics. Part A, 2021
Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant.
Spagnoli C et al.
European Journal of Neurology, 2019
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