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Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.

Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2020

Katagiri Satoshi, Hosono Katsuhiro, Hayashi Takaaki, Murai Noriyuki, Wake Eiichi, Miyata Ichiro, Mizobuchi Kei, Kurata Kentaro, Matsuura Tomokazu, Nakano Tadashi, Hotta Yoshihiro

Abstract excerpt

PURPOSE: To report the clinical and genetic features of a 9-year-old female Japanese patient with Bardet-Biedl syndrome (BBS). METHODS: Genetic analysis using whole-exome sequencing (WES) was performed for the patient and her parents to identify disease-causing variants. Reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to investigate the impact of splice-site variants. Comprehensive...

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PMID: 31997113
DOI: 10.1007/s10633-020-09752-5

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