A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

We analyzed two siblings in a Japanese family with delayed onset cone-rod dystrophy (CRD) using whole-exome sequencing. A novel frameshift c.1106dup (p.H370Afs*17) variant and a known missense c.2027 T > A (p.I676N) variant in CDHR1 were identified. Both patients shared the same variants, althoug...

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Publicado no:Hum Genome Var
Main Authors: Haque, Muhammad Nazmul, Kurata, Kentaro, Hosono, Katsuhiro, Ohtsubo, Masafumi, Ohishi, Kentaro, Sato, Miho, Minoshima, Shinsei, Hotta, Yoshihiro
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6459921/
https://ncbi.nlm.nih.gov/pubmed/30992995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0048-8
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