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 Muhammad Nazmul; KURATA Kentaro; HOSONO Katsuhiro; OHTSUBO Masafumi; OHISHI Kentaro; SATO Miho; MINOSHIMA Shinsei; HOTTA Yoshihiro

Art

J-GLOBAL ID：201902220305645817 Reference number：19A1250406

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

新規CDHR1フレームシフトおよび既知ミスセンス変異体の複合ヘテロ接合性組み合わせによって引き起こされる遅延発症型の錐体杆体ジストロフィーを有する日本人家系

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Material：
Volume： 6 Issue： Apr Page： WEB ONLY Publication year： Apr. 2019
JST Material Number： U1014A ISSN： 2054-345X Document type： Article
Article type：短報 Country of issue： Germany, Federal Republic of (DEU) Language： ENGLISH (EN)

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Eye diagnosis(= ophthalmic diagnosis) , Diagnostics of congenital diseases, deformities.

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