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"Beare-Stevenson" cutis gyrata syndrome
Did you mean "beard-stevens" cutis gyrate syndrome?
- Beare-Stevenson cutis gyrata syndrome is a genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of the skull ( ...
- ... the FGFR2 gene have been found to cause Beare-Stevenson cutis gyrata syndrome, a condition that causes craniosynostosis, leading to a ... as Tyr375Cys). The FGFR2 gene mutations that cause Beare-Stevenson cutis gyrata syndrome appear to overactivate signaling by the FGFR2 protein, ...
