Associated Papers
DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.
Manti F et al.
Neurology. Genetics, 2026
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
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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
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
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Çıkı K et al.
Metabolic Brain Disease, 2021
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
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
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.
van Spronsen FJ et al.
Journal of Medical Genetics, 2017
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