Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome.
Hsiang-Yu LinChung-Lin LeeSisca FranRu-Yi TuYa-Hui ChangDau-Ming NiuChia-Ying ChangPao-Chin ChiuYen-Yin ChouHui-Pin HsiaoMeng-Che TsaiMei-Chyn ChaoLi-Ping TsaiChia-Feng YangPen-Hua SuYu-Wen PanChen-Hao LeeTzu-Hung ChuChih-Kuang ChuangShuan-Pei LinPublished in: Journal of personalized medicine (2021)
The SRS score was positively correlated with the molecular diagnosis rate (p < 0.001). The SRS subjects with mUPD7 seemed to have fewer typical features and lower SRS scores than those with IC1 hypomethylation. Careful clinical observation and timely molecular confirmation are important to allow for an early diagnosis and multidisciplinary management of these patients.