Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder
Author:
Funder
Istanbul Üniversitesi
Bezmialem Vakıf Üniversitesi
Türkiye Bilimler Akademisi
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-023-06699-8.pdf
Reference26 articles.
1. Wang T et al (2020) Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun 11(1):5398
2. Chow J et al (2019) Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders. Genome Med 11(1):65
3. Kayser MA (2008) Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders. Semin Pediatr Neurol 15(3):127–131
4. Saudubray JM, Garcia-Cazorla A (2018) An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders. Dialogues Clin Neurosci 20(4):301–325
5. Reuter MS et al (2017) Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families With Neurodevelopmental Disorders. JAMA Psychiatry 74(3):293–299
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