HIGHLIGHTS
- who: . and colleagues from the China Medical University, Guangdong Provincial Clinical Research Center for Child Health have published the research work: Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome, in the Journal: (JOURNAL)
- what: The authors analyzed the clinical and genetic findings of 11 Chinese children with WSS retrospectively, and reviewed the clinical presentations of 41 previously reported Chinese WSS Frontiers in Genetics In this study, eleven different variants, including three known and eight novel variants, of the KMT2A gene were identified in 11 WSS children without . . .
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