• A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene
• A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly
• A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction
• A case report on fibular aplasia, tibial campomelia, oligosyndactyly syndrome variant in a male infant
• A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures
• A far-upstream (-70 kb) enhancer mediates Sox9 auto-regulation in somatic tissues during development and adult regeneration
• A mutation creating an upstream initiation codon in the <em>SOX9</em> 5' UTR causes acampomelic campomelic dysplasia
• A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia
• A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of <em>SOX9</em>
• A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9
• A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome
• A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations
• Absent pedicles in campomelic dysplasia
• Acampomelic form of campomelic dysplasia with SOX9 missense mutation
• Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene
• Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
• Anesthetic management in a child with Rolland-Desbuquois type dyssegmental dysplasia
• Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia
• Campomelic dysplasia
• Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report
• Case report: A <em>de novo</em> Non-sense <em>SOX9</em> mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia
• Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia
• Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with <em>SOX9</em> deletion
• Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion
• Chromatin profiling identifies chondrocyte-specific Sox9 enhancers important for skeletal development
• Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter
• Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations
• Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report
• Cloverleaf skull and bilateral facial clefts
• Combinatorial CRISPR/Cas9 Approach to Elucidate a Far-Upstream Enhancer Complex for Tissue-Specific Sox9 Expression
• Congenital heart defects in patients with deletions upstream of SOX9
• Construction and characterization of a sox9b transgenic reporter line
• Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development
• Cystic hygroma and micromelic lower limbs: First-trimester sonographic markers of campomelic dysplasia
• Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence
• Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives
• Dominant-negative SOX9 mutations in campomelic dysplasia
• Enteral Nutrition Related Complications Relevant to Alteration of Formulas in Two Critically Ill Pediatric Patients
• Evolutionary Landscape of <em>SOX</em> Genes to Inform Genotype-to-Phenotype Relationships
• Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
• Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene
• Familial campomelic dysplasia due to maternal germinal mosaicism
• FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, Oligosyndactyly with Talar Aplasia). A Case Study
• Fetal magnetic resonance imaging of skeletal dysplasias
• Fibular aplasia, tibial campomelia, and oligosyndactyly: a further patient with a 2-year follow-up
• Heterozygous deletion of Sox9 in mouse mimics the gonadal sex reversal phenotype associated with campomelic dysplasia in humans
• Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog-Wnt signaling, causing campomelia
• Identification of five novel genetic loci related to facial morphology by genome-wide association studies
• Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence
• Identifying pathogenic variants in the Follistatin-like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders
• Knotted transpyloric tube in an infant
• Lethal and life-limiting skeletal dysplasias: Selected prenatal issues
• Mesoderm-specific Stat3 deletion affects expression of Sox9 yielding Sox9-dependent phenotypes
• Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing
• New pathogenic variant in <em>DLX5</em>: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly
• Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies
• Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2
• Novel c.358C&gt;T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia
• Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia
• Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
• p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia
• Palatoplasty for the Patient With Campomelic Dysplasia-Report of a Case and Review of the Literature
• Phenotype-genotype relationships in Xenopus sox9 crispants provide insights into campomelic dysplasia and vertebrate jaw evolution
• Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment
• Prenatal diagnosis of campomelic dysplasia due to <em>SOX9</em> deletion
• Prenatal diagnosis of campomelic dysplasia due to SOX9 deletion
• Prenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study
• Prenatal diagnosis of fetal skeletal dysplasia using 3-dimensional computed tomography: a prospective study
• Prenatal diagnosis of fibular aplasia-tibial campomelia-oligosyndactyly syndrome: Two case reports and review of the literature
• Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly
• Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management
• Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes
• Roles and regulation of SOX transcription factors in skeletogenesis
• Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration
• Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
• SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms
• SOX9 and the many facets of its regulation in the chondrocyte lineage
• SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements
• Sox9 deletion causes severe intervertebral disc degeneration characterized by apoptosis, matrix remodeling, and compartment-specific transcriptomic changes
• SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype
• SOX9 in organogenesis: shared and unique transcriptional functions
• SOX9 keeps growth plates and articular cartilage healthy by inhibiting chondrocyte dedifferentiation/osteoblastic redifferentiation
• SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings
• Sox9 plays multiple roles in the lung epithelium during branching morphogenesis
• SOX9: A genomic view of tissue specific expression and action
• Sox9: a master regulator of the pancreatic program
• Spine malformation complex in 3 diverse syndromic entities: Case reports
• Successful pregnancy in ventilatory failure due to campomelic dysplasia with severe kyphoscoliosis
• Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9
• The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
• The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly
• The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions
• The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation
• The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers
• The SOXE transcription factors-SOX8, SOX9 and SOX10-share a bi-partite transactivation mechanism
• The versatile functions of Sox9 in development, stem cells, and human diseases
• Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16
• Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel 1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16
• Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis
• When standard genetic testing does not solve the mystery: a rare case of preimplantation genetic diagnosis for campomelic dysplasia in the setting of parental mosaicism