Associated Papers
DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.
Manti F et al.
Neurology. Genetics, 2026
DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified.
Wong TS et al.
International Journal of Neonatal Screening, 2024
DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration.
Deng IB et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.
Li M et al.
Molecular Genetics & Genomic Medicine, 2020
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