Identification and functional characterization of a novel pathogenic DVL1 gene variant in Robinow syndrome.
A rare bone dysplasia gene variant was identified and validated in one patient, contributing to understanding but with limited evidence from single-case findings.
This case report identifies and functionally validates a novel pathogenic DVL1 gene variant in a patient with Robinow syndrome, a rare skeletal dysplasia. While relevant to rare disease genomics, the single-patient case report design limits evidence weight.
What the study was
- Study design
- Case report with functional characterization
- Population
- Individual patient with Robinow syndrome
- Sample size
- 1
- Category
- Genomics/Precision Medicine
- Maturity
- Exploratory
- Journal
- Molecular Genetics and Genomics
Why it surfaced
Case report cap applies (max 4/10). Single patient, rare skeletal dysplasia. Score 3/10.
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