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3 Possible Causes for Mutation in the TTLL5 Gene

  • Cone Rod Dystrophy
  • Retinal Dystrophy

    Our study uncovers the pathogenic mechanism whereby absence of RPGR(ORF15) glutamylation leads to retinal pathology in patients with TTLL5 gene mutations and connects these[ncbi.nlm.nih.gov]

  • Peripheral Cone Dystrophy

    […] and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy. ( 29057815 ) El Shamieh S....Zeitz C. 2017 15 Novel splice-site mutation in TTLL5 causes cone[malacards.org] […] of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy. ( 30588538 ) Liang J...Sun X 2018 14 Further Insights into the Ciliary Gene[malacards.org]

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