Associated Papers
Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ et al.
Orphanet Journal of Rare Diseases, 2019
31831025 (PubMed )
Supplement: 13023_2019_1243_MOESM5_ESM.pdf
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
Ebberink MS et al.
Human Mutation, 2010
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY et al.
Human Mutation, 2009
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