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A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report |
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| Authors: | Keitaro Mizumoto Kumiko Kato Kaoru Fujinami Tadasu Sugita Iichiro Sugita Ayako Hattori Shinji Saitoh Shinji Ueno Kazushige Tsunoda Takeshi Iwata Mineo Kondo |
| Abstract: | |
| Keywords: | ARL6 Bardet-Biedl syndrome BBS3 polydactyly retinitis pigmentosa retinitis punctata albescens |