Antley-Bixler syndrome without disordered steroidogenesis (DOID:0081290)
Alliance: disease page
Alt IDs: OMIM:207410
Definition: An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.