Article
A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2019
Wenger Tara L, Hopper Richard A, Rosen Anna, Tully Hannah M, Cunningham Michael L, Lee Amy
Abstract excerpt
PURPOSE: Among children with FGFR2-associated Pfeiffer syndrome, those with the W290C pathogenic variant (PV) are reported to have the worst clinical outcomes. Mortality is high, and severe neurocognitive impairment has been reported in all surviving patients. However, it is unclear whether these poor outcomes are an unavoidable consequence of the PV itself, or could be improved with a genotype-specific treatment...
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