Associated Papers
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1
A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants.
Haque MN et al.
Human Genome Variation, 2019
30992995 (PubMed )
Supplement: 41439_2019_48_MOESM3_ESM.pdf
Clinical characteristics of early retinal disease due to CDHR1 mutation.
Ba-Abbad R et al.
Molecular Vision, 2013
A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.
Cohen B et al.
Molecular Vision, 2012
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.
Ostergaard E et al.
Journal of Medical Genetics, 2010
Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.
Bessette AP et al.
Ophthalmic Genetics, 0
28885867 (PubMed )
Supplement: supplement_1.docx
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