• A child with a novel ACAN missense variant mimicking a septic arthritis
• A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review
• A new acro-osteolysis syndrome caused by duplications including PTHLH
• A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B
• A Novel <em>COMP</em> Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia
• A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia
• A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia
• A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum
• A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia
• A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35
• A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication
• Achondroplasia
• Achondroplasia
• Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease
• Acrodysostosis
• Acrodysostosis syndromes
• Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage
• Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
• An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO
• Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course
• Biallelic cGMP-dependent type II protein kinase gene (<em>PRKG2</em>) variants cause a novel acromesomelic dysplasia
• Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
• Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia
• Biology of RUNX2 and Cleidocranial Dysplasia
• Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population
• Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype
• Case report: Whole exome sequencing and genome-wide methylation profiling of Czech dysplasia in a Chinese pedigree
• Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5
• Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with <em>WDR35</em> variants
• Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants
• Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
• Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH
• Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
• Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type
• Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction
• Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder
• Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
• Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
• Early childhood presentation of Czech dysplasia
• Ellis van Creveld. Case report
• Embryonic cranial cartilage defects in the Fgfr3^Y367C ^/+ mouse model of achondroplasia
• Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis
• Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report
• Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
• Extremity anomalies associated with Robinow syndrome
• Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant
• Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report
• Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis
• Further evidence of POP1 mutations as the cause of anauxetic dysplasia
• Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification
• Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance
• Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature
• Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis
• Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome
• Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
• Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders
• IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy
• IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)
• Kabuki syndrome: clinical and molecular diagnosis in the first year of life
• Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies
• Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome
• Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis
• Multiple epiphyseal dysplasia in an Old Kingdom Egyptian skeleton: A case report
• Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3
• Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
• Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2
• Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype
• Novel and recurrent <em>COMP</em> gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods
• Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods
• Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature
• Novel FGF9 variant contributes to multiple synostoses syndrome 3
• Onychodystrophy with Multiple Epiphyseal Dysplasia: Literature Review
• Osteoglophonic Dysplasia: Phenotypic and Radiological Clues
• Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature
• PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
• Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
• Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation
• PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance
• Progressive hip joint subluxation in Saul-Wilson syndrome
• Recurrent missense mutation of <em>GDF5</em> (<em>p.R438L</em>) causes proximal symphalangism in a British family
• Recurrent pericarditis in Myhre syndrome
• Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes
• RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review
• RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease
• SAG therapy restores bone growth and reduces enchondroma incidence in a model of skeletal chondrodysplasias caused by Ihh deficiency
• Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients
• Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain
• Severe Cranio-Cervical Stenosis in a Child with Saul-Wilson Syndrome: A Case Report
• Skeletal ciliopathies: a pattern recognition approach
• Smad4 regulates growth plate matrix production and chondrocyte polarity
• Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report
• Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation
• Tarsal-carpal coalition syndrome: a familial case
• Thanatophoric Dysplasia
• The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
• The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2
• Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?
• Trichorhinophalangeal syndrome
• TRPV4-associated skeletal dysplasias
• Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects