• A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia
• A case with Pyle type metaphyseal dysplasia: clinical, radiological and histological evaluation
• A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia
• A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia
• Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
• Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia
• Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP
• Craniofacial, dental, and molecular features of Pyle disease in a South African child
• Developmental characteristics of various types of hand bones of Poland's syndrome
• Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity
• Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features
• Further phenotypic features and two novel <em>POC1A</em> variants in a patient with SOFT syndrome: A case report
• Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia
• Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings
• METAPHYSIAL DYSOSTOSIS, TYPE SCHMID
• Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
• Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
• 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
• Pyle metaphyseal dysplasia
• Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management
• Sfrp4 and the Biology of Cortical Bone
• Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report
• Taurodontism in dental genetics
• The Erlenmeyer flask bone deformity in the skeletal dysplasias
• The First Report of Biallelic Missense Mutations in the <em>SFRP4</em> Gene Causing Pyle Disease in Two Siblings
• The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings