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37971880 (PubMed )
Supplement: jciinsight-9-162621-s010.pdf
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.
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Ophthalmic Genetics, 2016
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
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Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.
Jinda W et al.
Investigative Ophthalmology & Visual Science, 2014
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