Associated Papers
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.
Audo I et al.
Human Mutation, 2011
A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.
Sergouniotis PI et al.
Investigative Ophthalmology & Visual Science, 2011
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