COMPLETE CITATION
Citation and identifiers
Cordova I, Blesson A, Savatt JM, et al.. “Expansion of the genotypic and phenotypic spectrum of ASH1L-related syndromic neurodevelopmental disorder.” Genes. 15(4):423 · doi:10.3390/genes15040423.
- PubMed ID
- 38674358 ↗
RESEARCH QUESTION
Which molecular findings and clinical features broaden the reported spectrum of ASH1L-related syndromic neurodevelopmental disorder in this cohort?
This retrospective focused cohort contributes feature-specific denominators and expands the published molecular and phenotypic spectrum, but its cohort cannot stand in for the connected community dataset or population prevalence.
INTERPRETATION BOUNDARY
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What this study supports
A focused cohort expanding the published human phenotype and molecular spectrum, with feature-specific denominators.
What it cannot establish
Retrospective published cohort; its denominators cannot be substituted for the connected community dataset or a population estimate.
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