• A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome
• A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly
• A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type
• A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia
• A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia
• A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree
• A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2-related congenital adrenal hyperplasia
• A rare case of Fanconi anemia with Mitomycin C sensitivity: A pediatrics case report
• An osteosclerotic form of Robinow syndrome
• An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits
• Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family
• Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
• Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome
• Brachydactyly, mesomelia, mental retardation, aortic dilatation, mitral valve prolapse, and characteristic face
• Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?
• Clinical and Genetic Characteristics of 23 Korean Patients with Haploinsufficiency of the Short-stature Homeobox-containing Gene
• Combined achondroplasia and short stature homeobox (SHOX) gene deletion in a Danish infant
• Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant
• Diastrophic dysplasia: prenatal diagnosis and review of the literature
• Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height
• Dyschondrosteosis and Madelung's deformity. Report of three kindreds and review of the literature
• Extremity anomalies associated with Robinow syndrome
• Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome
• Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan
• Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function
• Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency
• Madelung's deformity and dyschondrosteosis
• Madelung's deformity and possible Léri-Weill dyschondrosteosis: Two cases from a Late Intermediate period tomb, Ancash, Peru
• Madelung's deformity: a spectrum of presentation
• Madelung's disease of the wrist and dyschondrosteosis
• Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13
• Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
• Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene
• Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia
• Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course
• Metabolic syndrome coexists with adult Léri-Weill dyschondrosteosis: A case report
• Metaphyseal chondrodysplasia, upper limb mesomelia and normal height (mesomelic dysplasia camera type): second report in a Mexican patient
• Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer
• Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type
• Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX
• New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia
• New syndrome: renal dysplasia, mesomelia, and radiohumeral fusion
• Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects
• Phenotypes Associated with SHOX Deficiency
• Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities
• Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type
• Prenatal prevalence of skeletal dysplasias and a proposal ultrasonographic diagnosis approach
• Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome
• Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?
• Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?
• Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2
• Short stature due to SHOX deficiency: genotype, phenotype, and therapy
• SHOX Deficiency Disorders
• Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome
• Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness
• Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling
• Sulfate in fetal development
• Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article
• Vitamin A mediated limb deformities in the common Indian toad, Bufo melanostictus (Schneider)