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

Author:

Mizumoto Keitaro,Kato Kumiko,Fujinami Kaoru,Sugita Tadasu,Sugita Iichiro,Hattori Ayako,Saitoh Shinji,Ueno Shinji,Tsunoda Kazushige,Iwata Takeshi,Kondo Mineo

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference64 articles.

1. Bardet-Biedl syndrome;Forsythe;Eur J Hum Genet,2013

2. Bardet-Biedl syndrome: genetics, molecular pathophysiology, and disease management;Priya;Indian J Ophthalmol,2016

3. Genetics of human Bardet-Biedl syndrome, an updates;Khan;Clin Genet,2016

4. Managing Bardet-Biedl syndrome–now and in the future;Forsythe;Front Pediatr,2018

5. Bardet-Biedl syndrome and retinitis punctata albescens in an isolated northern Canadian community;Pearce;Can J Ophthalmol,1984

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