HIGHLIGHTS
- who: . et al. from the Capital Institute of Pediatrics, China Fudan University, China have published the research: Identi cation and functional analysis of novel in Chinese patients with Cof n-Siris syndrome 9, in the Journal: (JOURNAL)
- what: Consistently, patients 2 and 3 in this study had both DD and ID. The study provides new evidence to support the observation that the The authors reported three novel SOX11 variants (Y113H, A142G, and K274*) in Chinese patients.
SUMMARY
DNA sequencing WES was performed in all three patients as previously described (Wang et_al . . .
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