A5101964658- Connective tissue disorders research
- Genetics and Neurodevelopmental Disorders
- Congenital limb and hand anomalies
- Phosphodiesterase function and regulation
- dental development and anomalies
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Receptor Mechanisms and Signaling
Soochow University
2021
Second Affiliated Hospital of Soochow University
2021
Wenzhou Central Hospital
2021
Wenzhou Medical University
2016-2018
Genetic skeletal disorders (GSD) involving the system arises through disturbances in complex processes of development, growth and homeostasis remain a diagnostic challenge because their clinical heterogeneity genetic variety. Over past decades, tremendous effort platforms have been made to explore heterogeneity, massive new genes mutations identified different GSD, but information supplied by literature is still limited it hard meet further needs scientists clinicians. In this study,...
Abstract Background QRFPR is a recently identified member of the G protein‐coupled receptor and an orphan for 26Rfa, which plays important role in regulation many physiological functions. Methods Here, we employed whole exome sequencing (WES) to examine patients with intellectual disability (ID) difficulty feeding. We performed SIFT PolyPhen2 predictions variants. The structure model was built from scratch by I‐TASSER. results derived number cell‐based functional assays, including shRNA...
Abstract Background Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene ( FBN2 ). The primary clinical symptoms of CCA include multiple flexion contractures, arachnodactyly, dolichostenomelia, scoliosis, abnormal pinnae, muscular hypoplasia, and crumpled ears. Methods We used whole‐exome sequencing technology to examine an arthrogryposis multiplex congenita Sanger genetically confirm its family. Results...
To explore the clinical features and genetic mutation in a family affected with non-syndrome X-linked intellectual disability (NS-XLID) using whole exome sequencing (WES).Multiplex ligation-dependent probe amplification (MLPA) was applied to screen potential mutations of Fragile X syndrome (FXS). Whole (WES) Sanger were for pathological mutations.FXS excluded by MLPA analysis. WES has discovered proband an ARX gene c.88G>T, which confirmed sequencing. Combining his phenotype information from...