_:vb50945463 . _:vb50945463 . _:vb50945463 . _:vb50945463 . _:vb50945463 "url:https://www.ncbi.nlm.nih.gov/pubmed/15523633"^^ . _:vb50945463 "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28."^^ . _:vb50945463 . _:vb50945463 "url:https://www.ncbi.nlm.nih.gov/pubmed/12612583"^^ .