Associated Papers
Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome.
Hoytema van Konijnenburg EMM et al.
Molecular Genetics and Metabolism Reports, 2020
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
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.
Zhang Z et al.
Human Mutation, 1999
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