A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11
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DOI: 10.1111/cge.14108
Abstract: Retinol dehydrogenase 11 (RDH11) is an 11‐cis‐retinol dehydrogenase that has a well‐characterized, albeit auxiliary role in the retinoid cycle. Diseases caused by mutations in the RDH11 gene are very rare, and only one affected family… read more here.
Keywords: phenotype syndromic; retinol dehydrogenase; retinitis pigmentosa; caused mutations ... See more keywords