Associated Papers
DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.
Manti F et al.
Neurology. Genetics, 2026
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings.
Fino E et al.
Molecular Genetics and Metabolism Reports, 2023
Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.
Wong RSH et al.
Brain & Development, 2023
Restless legs syndrome in DNAJC12 deficiency.
Porta F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.
Veenma D et al.
European Journal of Human Genetics : Ejhg, 2018
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