Syndromic ciliopathy: a taiwanese single-center study

• Main Authors: Yu-Wen Pan (Author), Tsung-Ying Ou (Author), Yen-Yin Chou (Author), Pao-Lin Kuo (Author), Hui-Pin Hsiao (Author), Pao-Chin Chiu (Author), Ju-Li Lin (Author), Fu-Sung Lo (Author), Chung-Hsing Wang (Author), Peng-Chieh Chen (Author), Meng-Che Tsai (Author)
• Format: Book
• Published: BMC, 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. The hallmark of the pathophysiology among these disorders is defective c...