Associated Papers
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
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
Identification of an inherited pathogenic DNAJC12 variant in a patient with hyperphenylalalinemia.
Feng Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
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