HIGHLIGHTS
- who: PAX and colleagues from the RIKEN Center for Integrative Medical Sciences, Japan Indiana University School of Medicine have published the research: Diversity of clinical phenotypes in a cohort of Han Chinese patients with variants, in the Journal: (JOURNAL)
- how: Genetic testing was performed for all patients and their family members following the provision of informed consent and this study was conducted in accordance with the principles of the Helsinki Declaration and approved by the Ethics Committee of Beijing Children`s Hospital (No 2016-42).
SUMMARY
Chromosomal aberrations such as deletions . . .
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