• A rare association of pathological variant of Alport's syndrome caused by hemizygous 5' splice mutation in intron 10 of COL4A5 gene with metachondromatosis due to heterozygous missense variation in protein tyrosine phosphatase nonreceptor type 1
• Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature
• An unusual example of hereditary multiple exostoses: a case report and review of the literature
• Arthroscopic resection of femoral neck osteochondroma: Report of a pediatric case of metachondromatosis
• Avascular necrosis of the capital femoral epiphysis in metachondromatosis
• Canine multiple cartilaginous exostoses: unusual manifestations and a review of the literature
• Cartilaginous tumors in children
• Cell biology: tumour stem cells in bone
• Chondrosarcoma in metachondromatosis: a case report
• Chondrosarcoma in Metachondromatosis: A Rare Case Report
• Enchondromatosis revisited: new classification with molecular basis
• Enchondromatosis: insights on the different subtypes
• ERK1 and ERK2 regulate chondrocyte terminal differentiation during endochondral bone formation
• Erratum: metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome (Pediatr radiol (1997) 27: 436-441)
• Exostoses, enchondromatosis and metachondromatosis; diagnosis and management
• EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis
• EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis
• Forearm Hereditary Multiple Exostosis: A Retrospective Case Series Study
• From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis
• Genochondromatosis
• Genochondromatosis type II: report of a new patient and further delineation of the phenotype
• Intraosseous atypical chondroid tumor or chondrosarcoma grade 1 in patients with multiple osteochondromas
• Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome
• Metachondromatosis
• Metachondromatosis
• Metachondromatosis
• Metachondromatosis
• Metachondromatosis
• Metachondromatosis
• Metachondromatosis and avascular necrosis of the femoral head: a radiographic and histologic correlation
• Metachondromatosis without Enchondromas: A Case Report and Review of the Literature
• Metachondromatosis, 3 case reports with hereditary occurrence
• Metachondromatosis: A Confusing Disease
• Metachondromatosis: a diagnostic dilemma. Apropos of studies in a Puertorican family
• Metachondromatosis: a report of two cases in a family
• Metachondromatosis: more than just multiple osteochondromas
• Metachondromatosis: report of a case in a 6 year old boy
• Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864
• Metachondromatosis. Report of a family with 4 cases
• Metachondromatosis. Report of four cases
• Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2
• Multiple osteochondromas
• Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report
• Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders
• Pathological fractures; a consideration with metachondromatosis and differential diagnoses. Osteochondromatosis and Gauchers disease
• Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis
• Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling
• Regulation of bone and skeletal development by the SHP-2 protein tyrosine phosphatase
• Resolving neonatal osteochondroma: a case report and literature review
• Roentgen rounds #89. Metachondromatosis
• SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates
• SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes
• SHP2 sails from physiology to pathology
• SHP2-Deficiency in Chondrocytes Deforms Orofacial Cartilage and Ciliogenesis in Mice
• Superior tibial epiphyseal osteochondroma with intra-articular development. Apropos of 2 cases in children
• Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusions
• Targeted Ptpn11 deletion in mice reveals the essential role of SHP2 in osteoblast differentiation and skeletal homeostasis
• The Biological Function of SHP2 in Human Disease
• The Cell-Specific Role of SHP2 in Regulating Bone Homeostasis and Regeneration Niches
• The widened spectrum of multiple cartilaginous exostosis (MCE)
• Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis
• Update on the imaging features of the enchondromatosis syndromes
• Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene