The peroxisome biogenesis disorders (PBDs) are a group of neuronal migration/neurodegenerative disorders that arise from defects in PEX genes. A major subgroup of the PBDs includes Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). These three disorder
EXOSC3mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
✍ Scribed by Eggens, Veerle RC; Barth, Peter G; Niermeijer, Jikke-Mien F; Berg, Jonathan N; Darin, Niklas; Dixit, Abhijit; Fluss, Joel; Foulds, Nicola; Fowler, Darren; Hortobágyi, Tibor; Jacques, Thomas; King, Mary D; Makrythanasis, Periklis; Máté, Adrienn; Nicoll, James AR; O’Rourke, Declan; Price, Sue; Williams, Andrew N; Wilson, Louise; Suri, Mohnish; Sztriha, Laszlo; Dijns-de Wissel, Marit B; van Meegen, Mia T; van Ruissen, Fred; Aronica, Eleonora; Troost, Dirk; Majoie, Charles BLM; Marquering, Henk A; Poll-Thé, Bwee; Baas, Frank
- Book ID
- 121547105
- Publisher
- BioMed Central
- Year
- 2014
- Tongue
- English
- Weight
- 373 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1750-1172
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