Associated Papers
Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.
Theunis M et al.
Ophthalmic Genetics, 2026
Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ et al.
Orphanet Journal of Rare Diseases, 2019
Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
Furuki S et al.
The Journal of Biological Chemistry, 2006
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
Matsumoto N et al.
American Journal of Human Genetics, 2003
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