• A case of dwarfism in 6th century Italy: Bioarchaeological assessment of a hereditary disorder
• A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3
• A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly
• A Novel Mutation in the <em>TRIP11</em> Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia
• A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia
• A novel variant of FGFR3 causes proportionate short stature
• A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasia
• Acanthosis Nigricans and Hypochondroplasia Associated with FGFR3 Mutation: A Case Report
• Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in <em>FGFR3</em>
• Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in FGFR3
• Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature
• Achondroplasia-First Report from India of a Rare FGFR3 Gene Variant
• Achondroplasia: Development, pathogenesis, and therapy
• An association of hypochondroplasia and immune deficiency
• An intronic variant disrupts mRNA splicing and causes <em>FGFR3</em>-related skeletal dysplasia
• Argentine references for the assessment of body proportions from birth to 17 years of age
• Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia
• Bilious Vomiting in the Newborn: A Three-Year Experience in a Tertiary Medical and Surgical Centre
• C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia
• Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review
• Children with short-limbed short stature in pediatric endocrinological services in Japan
• Chronic traumatic encephalopathy-neuropathologic change in a routine neuropathology service: 7-year follow-up
• Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients
• Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare <em>FGFR3</em> variant
• Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant
• Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation
• Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood
• Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant
• Collagen X Marker Levels are Decreased in Individuals with Achondroplasia
• Comparison of Modifications of Femoral and Tibial Lengthening in Children
• Criteria for radiologic diagnosis of hypochondroplasia in neonates
• Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias
• Dental characteristics of patients with four different types of skeletal dysplasias
• Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia
• Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review
• Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia
• Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohort
• Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis
• Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia
• Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia
• Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia
• Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report
• Familial acanthosis nigricans with p.K650T FGFR3 mutation
• Familial acanthosis nigricans with the FGFR3 mutation: Differences of pigmentation between male and female patients
• Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation
• FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry
• FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met
• FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation
• Foramen magnum compression in Coffin-Lowry syndrome: A case report
• Frequency of the allelic variant c.1150T &gt; C in exon 10 of the fibroblast growth factor receptor 3 (FGFR3) gene is not increased in patients with pathogenic mutations and related chondrodysplasia phenotypes
• Further delineation of achondroplasia-hypochondroplasia complex with long-term survival
• Granulomatous cholangitis mimicking hilar cholangiocarcinoma: a case report
• Growth hormone treatment in patients with hypochondroplasia
• Growth in puberty in girls with hypochondroplasia, p.Asn540Lys-related mutations
• Growth reference charts for children with hypochondroplasia
• Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis
• High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with <em>FGFR3</em>-Related Skeletal Dysplasias
• History of GH treatment in Japan
• Homozygous N540K hypochondroplasia--first report: radiological and clinical features
• Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases
• Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice
• Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?
• Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family
• Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia
• Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review
• Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations
• Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias
• Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study
• Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic <em>PTPN11</em> Variant
• Low bone mineral density in achondroplasia and hypochondroplasia
• Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation
• Molecular genetic analysis and growth hormone response in patients with syndromic short stature
• Molecular testing strategies in the evaluation of fetal skeletal dysplasia
• Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia
• New Magnetic Resonance Imaging (MRI) findings in a patient with hypochondroplasia caused by the FGFR3 N540K variant
• Novel and Recurrent Mutations in the <em>FGFR3</em> Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia
• Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants
• Osteological evidence of short-limbed dwarfism in a nineteenth century Dutch family: Achondroplasia or hypochondroplasia
• p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype
• Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population
• Patients with musculoskeletal dysplasia undergoing total joint arthroplasty are at increased risk of surgical site Infection
• Prenatal diagnosis of single gene disorders using amniotic fluid as the starting material for PCR
• Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia
• Prophylactic Intramedullary Rodding After Femoral Lengthening in Patients With Achondroplasia and Hypochondroplasia
• Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report
• Residual levels, phase distributions, and human health risks of OCPs in the middle reach of the Huai River, China
• Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
• Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia
• Sitting Height to Standing Height Ratio Reference Charts for Children in the United States
• Structure, activation and dysregulation of fibroblast growth factor receptor kinases: perspectives for clinical targeting
• Surgical Results of Limb Lengthening at the Femur, Tibia, and Humerus in Patients with Achondroplasia
• Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with <em>FGFR3-</em>Related Skeletal Dysplasias
• Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?
• The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation. A systematic review of 18 trials involving 547 patients
• Topical rapamycin for acanthosis nigricans in the Fitzpatrick IV/V adolescent population
• Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family
• Use of Growth Hormone Treatment in Skeletal Dysplasia - A Review
• Vosoritide treatment for children with hypochondroplasia: a phase 2 trial
• What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer
• Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia