Beare-Stevenson Syndrome

About the Disease
Beare-Stevenson Cutis Gyrata Syndrome, also known as cutis gyrata syndrome of beare and stevenson, is related to exophthalmos and hydrocephalus, and has symptoms including respiratory distress An important gene associated with Beare-Stevenson Cutis Gyrata Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Akt Signaling and RAF/MAP kinase cascade. Affiliated tissues include skin, bone and brain, and related phenotypes are ptosis and depressed nasal bridge

Common Targets
FGFR2

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