INTRODUCTION
Bardet-Biedl syndrome (BBS) is a multisystem ciliopathy characterized by progressive retinal degeneration alongside metabolic, renal, endocrine, and neurodevelopmental manifestations, resulting in profound quality of life (QoL) impairment. In the absence of disease-modifying therapies, patient- and caregiv...
Tasha Miller, A. Gao, Ivan Quan et al.· Ophthalmic Genetics· 0 citations
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