Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study.
A large study of Cornelia de Lange syndrome in Chinese children expands global understanding of this genetic disorder's features and variations.
This single-center retrospective study of 84 Chinese pediatric CdLS patients describes clinical features and genotype-phenotype correlations, adding East Asian cohort data to the global CdLS literature. Findings expand understanding of CdLS spectrum but are limited by single-center retrospective design.
What the study was
- Study design
- Retrospective observational cohort
- Population
- 84 pediatric patients with Cornelia de Lange syndrome, single Chinese center
- Sample size
- 84
- Category
- Genomics/Precision Medicine
- Maturity
- Exploratory
- Journal
- Eur J Pediatr
Why it surfaced
Rare disease descriptive cohort; standard addition for rare disease topic. n=84 with genotype-phenotype is informative but not practice-changing.
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