A Case Study Through an Audiological Perspective on a Pediatric Patient Diagnosed with Zellweger Syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Otorhinolaryngology,Surgery
Link
https://link.springer.com/content/pdf/10.1007/s12070-023-03485-y.pdf
Reference4 articles.
1. Barillari MR, Karali M, Di Iorio V et al (2020) Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: detailed clinical investigation in a 9-years-old female. Mol Genet Metab Rep 24:100615 Published 2020 Jun 20. doi:https://doi.org/10.1016/j.ymgmr.2020.100615
2. Crane DI, Maxwell MA, Paton BC (2005) PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. Hum Mutat 26:167–175
3. Kheir AE (2011) Zellweger syndrome: a cause of neonatal hypotonia and seizures. Sudan J Paediatr 11(2):54–58
4. Rosewich H, Ohlenbusch A, Gartner J (2005) Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. J Med Genet 42:e58
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