Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 25454926.
- Also identified by DOI 10.1016/j.jpeds.2014.10.015.
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Abstract
Using exome analysis, we identified a novel overgrowth syndrome arising from a mutation in PDGFRB, which plays a critical role in growth and differentiation. This entity is characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, white matter lesions, and neurologic deterioration.
Medical subject headings
- Growth Disorders
- Mutation
- Receptor, Platelet-Derived Growth Factor beta