Associated Papers
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.
Mizumoto K et al.
Medicine, 2022
Legg-Calvé-Perthes disease in a patient with Bardet-Biedl syndrome: A case report of a novel MKKS/BBS6 mutation.
Mishima K et al.
Clinical Case Reports, 2020
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