Disease: Metaphyseal dysplasia Pyle type
- 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