Article
Syndromic ciliopathy: a taiwanese single-center study.
BMC medical genomics - 26 Apr 2024
Pan Yu-Wen, Ou Tsung-Ying, Chou Yen-Yin, Kuo Pao-Lin, Hsiao Hui-Pin, Chiu Pao-Chin, Lin Ju-Li, Lo Fu-Sung, Wang Chung-Hsing, Chen Peng-Chieh, Tsai Meng-Che
Abstract excerpt
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 ciliar...
Topics
- Humans
- Male
- Female
- Taiwan
- Ciliopathies
- Child
- Child, Preschool
- Mutation
- Exome Sequencing
- Bardet-Biedl Syndrome
- Adolescent
- Infant
- Abnormalities, Multiple