Article
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2020
Daich Varela Malena, Jani Priyam, Zein Wadih M, D'Souza Precilla, Wolfe Lynne, Chisholm Jennifer, Zalewski Christopher, Adams David, Warner Blake M, Huryn Laryssa A, Hufnagel Robert B
Abstract excerpt
The spectrum of peroxisomal disorders is wide and comprises individuals that die in the first year of life, as well as people with sensorineural hearing loss, retinal dystrophy and amelogenesis imperfecta. In this article, we describe three patients; two diagnosed with Heimler syndrome and a third one with a mild-intermediate phenotype. We arrived at these diagnoses by conducting complete ophthalmic (National Eye...
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