_:vb50951122 . _:vb50951122 . _:vb50951122 "url:https://www.ncbi.nlm.nih.gov/pubmed/21378989"^^ . _:vb50951122 "A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12."^^ . _:vb50951122 "url:https://www.ncbi.nlm.nih.gov/pubmed/21378985"^^ . _:vb50951122 . _:vb50951122 "url:https://www.ncbi.nlm.nih.gov/pubmed/9714016"^^ . _:vb50951122 . _:vb50951122 .