COMPLETE CITATION
Citation and identifiers
Okamoto N, Miya F, Tsunoda T, et al.. “Novel MCA/ID syndrome with ASH1L mutation.” American Journal of Medical Genetics Part A. 173(6):1644–1648 · doi:10.1002/ajmg.a.38193.
- PubMed ID
- 28394464 ↗
RESEARCH QUESTION
What clinical association between an ASH1L variant and multiple congenital anomalies with intellectual disability was reported in this early case?
The case helped establish a syndrome-level ASH1L association but cannot by itself define the disorder or estimate the frequency of any feature.
INTERPRETATION BOUNDARY
Read the finding and limit together.
What this study supports
Early syndrome-level case report that helped establish the clinical association between disruptive ASH1L variation and neurodevelopmental disorder.
What it cannot establish
Single early case; not a complete syndrome definition or feature-frequency estimate.
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