Associated Papers
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?
de Koning MA et al.
European Journal of Human Genetics : Ejhg, 2025
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
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Falkenberg KD et al.
American Journal of Human Genetics, 2017
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ratbi I et al.
American Journal of Human Genetics, 2015
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
[Phenotype and karyologic aspects of Edwards' syndrome (case report)].
Piazzi G et al.
La Clinica Pediatrica, 1969
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