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| Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with |
| Yong Hoon Kim, Kwang Sic Joo, Moon-Woo Seong, Sung Sup Park, Se Joon Woo |
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Korean J Ophthalmol. 2020;34(1):94-95. Published online February 4, 2020 DOI: https://doi.org/10.3341/kjo.2019.0083 |
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Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient Korean Journal of Ophthalmology. 2020;34(1):94  Other Forms of Retinitis Pigmentosa—Usher Syndrome, Leber Congenital Amaurosis, and Bardet-Biedl Syndrome Handbook of Pediatric Retinal OCT and the Eye-Brain Connection. 2020;110-114 Neuronal ceroid lipofuscinosis and Bardet-Biedl syndrome in patient with retinitis pigmentosa Anales de Pediatría (English Edition). 2021;95(2):116-118 Novel homozygous protein‐truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet–Biedl syndrome Molecular Genetics & Genomic Medicine. 2021;9(8): Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects PLoS ONE. 2012;7(3):e34389 Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9) Journal of Biological Chemistry. 2015;290(32):19569-19583 A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome BioMed Research International. 2021;2021:1-5 Novel Homozygous Nonsense Mutation Associated with Bardet-Biedl Syndrome in Fetus with Congenital Renal Malformation . 2021; A Patient with Irritable Bowel Syndrome Improved After Treatment with <italic>Sosiho-tang</italic>, <italic>Jakyakgamcho-tang</italic>, and Acupuncture: A Case Report The Journal of Internal Korean Medicine. 2022;43(5):960-966 Novel homozygous nonsense mutation associated with Bardet–Biedl syndrome in fetuses with congenital renal malformation Medicine. 2022;101(32):e30003 |
