Articles with "siblings pex1" as a keyword



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Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.

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Published in 2023 at "Journal of pediatric ophthalmology and strabismus"

DOI: 10.3928/01913913-20230220-01

Abstract: PURPOSE To report two new cases with confirmed diagnosis of Heimler syndrome and describe their systemic and ophthalmic phenotype and visual rehabilitation. METHODS Retrospective review of medical records. RESULTS Both siblings were diagnosed as having… read more here.

Keywords: heimler syndrome; ophthalmic manifestations; manifestations heimler; two siblings ... See more keywords