Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study

CONCLUSIONS: Facial dysmorphism, neurodevelopmental disorder, hoarseness and cardiovascular anomalies were the most common phenotypes. Genetic testing should be suggested to confirm the diagnosis for children with the above abnormalities. Gender and age should be taken into account when making diagnosis and intervention.PMID:36168091 | DOI:10.1002/mgg3.2069

Source: Molecular Medicine - September 28, 2022 Category: Molecular Biology Authors: Fang-Fang Li Wei-Jun Chen Dan Yao Lin Xu Ji-Yang Shen Yan Zeng Zhuo Shi Xiao-Wei Ye Dao-Huan Kang Bin Xu Jie Shao Chai Ji Source Type: research