Role of SoxE transcription factors in development and disease.

Spatiotemporal Regulation and Lineage Specification in Embryonic Endochondral Ossification.

A long-term survivor of campomelic dysplasia with 46,XY disorder of sex development and hypogonadotropic hypogonadism.

Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.

Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes.

Campomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma.

SOX9 haploinsufficiency reveals SOX9-Noggin interaction in BMP-SMAD signaling pathway in chondrogenesis.

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.

Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.

Long-Term Outcomes of Airway Management in 6 Children With Campomelic Dysplasia.

Dissecting SOX9 dynamics reveals its differential regulation in osteoarthritis.

Chromatin profiling identifies chondrocyte-specific Sox9 enhancers important for skeletal development.

Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.

Prenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study.

Phenotype-genotype relationships in Xenopus sox9 crispants provide insights into campomelic dysplasia and vertebrate jaw evolution.

Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.

Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia.

Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.

Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog-Wnt signaling, causing campomelia.

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.

SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms.

SOX9 in organogenesis: shared and unique transcriptional functions.

Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion.

A case report on fibular aplasia, tibial campomelia, oligosyndactyly syndrome variant in a male infant.

The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions.

Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.

Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly.

SOX9 keeps growth plates and articular cartilage healthy by inhibiting chondrocyte dedifferentiation/osteoblastic redifferentiation.

Palatoplasty for the Patient With Campomelic Dysplasia-Report of a Case and Review of the Literature.

Prenatal diagnosis of fibular aplasia-tibial campomelia-oligosyndactyly syndrome: Two case reports and review of the literature.

Heterozygous deletion of Sox9 in mouse mimics the gonadal sex reversal phenotype associated with campomelic dysplasia in humans.

Prenatal diagnosis of fetal skeletal dysplasia using 3-dimensional computed tomography: a prospective study.

Sox9 deletion causes severe intervertebral disc degeneration characterized by apoptosis, matrix remodeling, and compartment-specific transcriptomic changes.

Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.

Fetal magnetic resonance imaging of skeletal dysplasias.

A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations.

Dominant-negative SOX9 mutations in campomelic dysplasia.

Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia.

Prenatal diagnosis of campomelic dysplasia due to SOX9 deletion.

The SOXE transcription factors-SOX8, SOX9 and SOX10-share a bi-partite transactivation mechanism.

Cystic hygroma and micromelic lower limbs: First-trimester sonographic markers of campomelic dysplasia.

Roles and regulation of SOX transcription factors in skeletogenesis.

Identifying pathogenic variants in the Follistatin-like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders.

Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report.

Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.

The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly.

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.

Combinatorial CRISPR/Cas9 Approach to Elucidate a Far-Upstream Enhancer Complex for Tissue-Specific Sox9 Expression.

Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies.

Identification of five novel genetic loci related to facial morphology by genome-wide association studies.

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9.

Familial campomelic dysplasia due to maternal germinal mosaicism.

Knotted transpyloric tube in an infant.

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.

A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia.

Absent pedicles in campomelic dysplasia.

FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, Oligosyndactyly with Talar Aplasia). A Case Study.

SOX9: A genomic view of tissue specific expression and action.

Mesoderm-specific Stat3 deletion affects expression of Sox9 yielding Sox9-dependent phenotypes.

SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements.

Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.

Spine malformation complex in 3 diverse syndromic entities: Case reports.

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.

A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction.

[A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly].

SOX9 and the many facets of its regulation in the chondrocyte lineage.

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.

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.

Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report.

SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.

[Cloverleaf skull and bilateral facial clefts].

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment.

A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene.

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.

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers.

The versatile functions of Sox9 in development, stem cells, and human diseases.

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.