• A case of mandibuloacral dysplasia presenting with features of scleroderma
• A newly recognized polyosteolysis/hyperostosis syndrome
• A novel homozygous MMP2 mutation in a family with Winchester syndrome
• A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome
• A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects
• A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy
• Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy
• Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene
• Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy
• Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene
• Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy
• Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings
• Digital clubbing, hyperhidrosis, acro-osteolysis and osteoporosis. A case resembling pachydermoperiostosis
• Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?
• Ellis-van Creveld syndrome
• Essential deformans osteolysis. Report of a case with progressive and generalized evolution (author's transl)
• Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype
• Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy
• Haim-Munk syndrome
• Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C
• Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?
• Hereditary Gottron's acrogeria with recessive transmission: a report of four cases in one family
• Hereditary multicentric osteolysis with recessive transmission: a new syndrome
• Hutchinson-Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance
• Hutchinson-Gilford progeria syndrome: review of the phenotype
• Idiopathic multicentric osteolysis
• Infantile systemic hyalinosis: Variable grades of severity
• Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family
• Juvenile non-hyaline fibromatosis: juvenile hyaline fibromatosis without prominent hyaline changes
• Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth
• Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
• Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China
• Mandibuloacral dysplasia: a rare progeroid syndrome. Two brothers confirm autosomal recessive inheritance
• Multicentric Osteolysis Nodulosis and Arthropathy
• Multicentric Osteolysis Nodulosis Arthropathy Syndrome Simulating Juvenile Idiopathic Arthritis in an Adult Female: A Case Report and a Literature Review
• Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling
• Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome
• Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease
• Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome
• Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis
• Nephropathy of idiopathic multicentric osteolysis
• New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome
• Notch signaling in human development and disease
• Notch signaling in skeletal health and disease
• One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes
• Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature
• Periodontal manifestations in a patient with haim-munk syndrome
• Phalangeal acroosteolysis associated with Down syndrome
• Pycnodysostosis: the disease of Henri de Toulouse-Lautrec
• Radiological findings in NAO syndrome
• Rare Inherited forms of Paget's Disease and Related Syndromes
• Self-limited autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia in a Kirghizian family
• Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades
• Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: a new syndrome?
• The diagnosis and management of patients with idiopathic osteolysis
• The new syndrome is not really a new syndrome. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, and arthropathy
• The new syndrome is not really a new syndrome. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, and arthropathy
• The pycnodysostosis (author's transl)
• The Winchester syndrome: clinical, radiographic and pathologic studies
• Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome
• Werner syndrome associated with acroosteolysis
• Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2
• Winchester syndrome: the progression of radiological findings over a 23-year period