Disease: Dysosteosclerosis
- <em>CSF1R</em>-Related Disorder
- A case report of dysosteosclerosis observed from the prenatal period
- A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature
- A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review
- A Null Mutation of <em>TNFRSF11A</em> Causes Dysosteosclerosis, Not Osteopetrosis
- A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis
- Arthrogryposis multiplex congenital in a child manifesting phenotypic features resembling dysosteosclerosis/osteosclerosis malformation complex; 3DCT scan analysis of the skull base
- Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
- Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP
- Case report: dysosteosclerosis: a unique entity
- Clinical and radiologic findings in an adult male with dysosteosclerosis
- CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology
- Differential diagnosis of a diffuse sclerosis in an identified male skull (early 20th century Coimbra, Portugal): A multimethodological approach for the identification of osteosclerotic dysplasias in skeletonized individuals
- Dysosteosclerosis
- Dysosteosclerosis
- Dysosteosclerosis
- Dysosteosclerosis
- Dysosteosclerosis in a mentally retarded boy
- Dysosteosclerosis is also caused by TNFRSF11A mutation
- Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review
- Dysosteosclerosis--a special form of generalized osteosclerosis
- Dysosteosclerosis: a case with unique dental findings and SEM evaluation of a hypoplastic tooth
- Dysosteosclerosis: a report of three new cases and evolution of the radiological findings
- Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity
- Dysosteosclerosis: clinicoradiologic findings including brain MRI
- Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis
- From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R
- Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features
- Genetic disorders associated with the RANKL/OPG/RANK pathway
- Homozygous mutation in <em>CSF1R</em> causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)
- Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)
- Imaging in osteopetrosis
- Letter to the Editor: Dysosteosclerosis related to the unique mutation in SLC29A3
- Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings
- Manifestation of dysosteosclerosis in the region of the jaw
- Modeling CSF-1 receptor deficiency diseases - how close are we?
- Osteoclast-poor osteopetrosis
- Osteomyelitis of the mandible and dysosteosclerosis
- Osteomyelitis of the mandible in a patient with dysosteosclerosis. Report of a case
- Osteopetrosis: Gene-based nosology and significance
- Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis
- Osteosclerotic metaphyseal dysplasia, dysosteosclerosis or osteomyelitis? Paediatric case presentation with associated mandibular swelling and a review of the literature
- Precontouring Plates for MIS Bilateral Femur Osteosynthesis Using a Patient-Specific 3D Printed Model: A Case Report
- Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the liter
- Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl
- Response to "Letter to the editor"
- Rhinoliquorrhea in a case of dysosteosclerosis with sclerosis of the aqueduct of Sylvius
- Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1
- Sclerosing bone dysplasias--a target-site approach
- Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis
- The Erlenmeyer flask bone deformity in the skeletal dysplasias
- The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history (including a candidate gene, CCDC120)
- The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120
- The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins
- TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum
- Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis
- X-linked dysosteosclerosis. Four familial cases