Associated Papers
Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.
Theunis M et al.
Ophthalmic Genetics, 2026
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
Daich Varela M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
García-García G et al.
Molecular Vision, 2020
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