Further evidence that variants inPPP1CBcause a rasopathy similar to Noonan syndrome with loose anagen hair

A novel rasopathy caused by recurrent de novo missense mutations inPPP1CBclosely resembles Noonan syndrome with loose anagen hair

(2016) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pathogenetics of the RASopathies

(2016) William E. Tidyman et al.   HUMAN MOLECULAR GENETICS

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

RAS diseases in children

(2014) C. M. Niemeyer   HAEMATOLOGICA

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

(2009) William E Tidyman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

(2009) Viviana Cordeddu et al.   NATURE GENETICS

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

(2008) Yoko Aoki et al.   HUMAN MUTATION