title: Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene.
abstract: The two well-described osteolysis syndromes associated with matrix metalloproteinase-2 deficiency and mutations in the metalloproteinase-2 gene are Torg-Winchester syndrome and nodulosis-arthropathy-osteolysis variant. They are characterized by carpal-tarsal destruction, subcutaneous nodules, and generalized osteoporosis and show autosomal recessive inheritance. Herein, we report two siblings affected with a novel mutation in matrix metalloproteinase 2 gene and discuss their clinical and radiographic findings.
authors: Department of Pediatric Nephrology and Rheumatology, Gulhane Military Medical Academy, School of Medicine, 06018 Etlik, Ankara, Turkey. faysalgok@yahoo.com
authors: Faysal
authors: F
authors: Gok
authors: Lauréane Mittaz
authors: LM
authors: Crettol
authors: Yasemin
authors: Y
authors: Alanay
authors: Bulent
authors: B
authors: Hacihamdioglu
authors: Murat
authors: M
authors: Kocaoglu
authors: Luisa
authors: L
authors: Bonafe
authors: Seza
authors: S
authors: Ozen
mesh_terms: D000293:Adolescent; D002648:Child; D006801:Humans; D007592:Joint Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D010014:Osteolysis / Q000000981:diagnostic imaging / Q000235:genetics*; D010211:Papilledema / Q000235:genetics; D011859:Radiography
chemical_list: D020778:Matrix Metalloproteinase 2