Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings
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DOI: 10.1080/13816810.2021.1923033
Abstract: ABSTRACT Background Heimler syndrome (OMIM number #234580 and #616617) is a rare condition comprising sensorineural hearing loss (SNHL), nail abnormalities and amelogenesis imperfecta. In addition, patients with this syndrome can have retinal dystrophies. Heimler syndrome… read more here.
Keywords: syndrome caused; heimler syndrome; caused pex1; two siblings ... See more keywords