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

ConclusionsFacial 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.

Source: Molecular Genetics & Genomic Medicine - September 28, 2022 Category: Genetics & Stem Cells 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 Tags: ORIGINAL ARTICLE Source Type: research