Dictionary
Bardet–Biedl Syndrome: Ciliopathy & Genetics
A comprehensive academic analysis of Bardet–Biedl syndrome (BBS), exploring its genetic causes, primary ciliary dysfunction,...
# ciliopathy
3 results
Dictionary
Alström–Hallgren Syndrome: Rare Ciliopathy Insights
A comprehensive academic entry exploring Alström–Hallgren syndrome, an ultra-rare monogenic ciliopathy characterized by cone-rod dystrophy,...
October 6, 2026
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Dr. Mohammed Looti
Dictionary
Acrocephalopolysyndactyly: Clinical Spectrum
Acrocephalopolysyndactyly is a rare genetic condition characterized by craniosynostosis, polysyndactyly, and systemic anomalies, primarily classified...
October 5, 2026
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Dr. Mohammed Looti