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
Gripp, Karen W KW; Aldinger, Kimberly A KA; Bennett, James T JT; Baker, Laura L; Tusi, Jessica J; Powell-Hamilton, Nina N; Stabley, Deborah D; Sol-Church, Katia K; Timms, Andrew E AE; Dobyns, William B WB
Publication Date: 2016-09
Variant appearance in text: BRAF: 967T>C; Ser323Pro