Article
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
American journal of medical genetics. Part A - 1 Sept 2016
Gripp Karen W, Aldinger Kimberly A, Bennett James T, Baker Laura, Tusi Jessica, Powell-Hamilton Nina, Stabley Deborah, Sol-Church Katia, Timms Andrew E, Dobyns William B
Abstract excerpt
Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype-phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is characterized by its distinctive hair anomalies, developmental differences, and structural brain abnormalities and is caused by a single recurrent missense SHOC2 mutation....
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