• <em>Drosophila</em> Homolog of the Human Carpenter Syndrome Linked Gene, <em>MEGF8</em>, Is Required for Synapse Development and Function
• "Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome
• 8 out of 10 patients do well after surgery for tarsal coalitions: A systematic review on 1284 coalitions
• A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability
• A familial case of NOG -related symphalangism spectrum disorder due to a novel NOG variant
• A mouse model of Timothy syndrome exhibits altered social competitive dominance and inhibitory neuron development
• A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal
• A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family
• A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder
• A novel variant in <em>MAP3K7</em> associated with an expanded cardiospondylocarpofacial syndrome phenotype
• A novel variant in the ROR2 gene underlying brachydactyly type B: a case report
• A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome
• A Rare Case Of Shprintzen-Goldberg Syndrome
• A Start Codon Variant in <em>NOG</em> Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes
• Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1
• Apert Syndrome Outcomes: Comparison of Posterior Vault Distraction Osteogenesis Versus Fronto Orbital Advancement
• Arthroscopic Talocalcaneal Coalition Resection in Children
• Association of Polymorphisms of <em>MASP1/3</em>, <em>COLEC10</em>, and <em>COLEC11</em> Genes with 3MC Syndrome
• Auricles Anomalies in Patients With a TCF12 Gene Mutation
• Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment
• Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
• Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report
• BMP antagonists in tissue development and disease
• Cerebral cortex maldevelopment in syndromic craniosynostosis
• Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department
• Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype
• Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation
• Clinical value of combined single photon emission computerized tomography and conventional computer tomography (SPECT/CT) in sports medicine
• Cortical Thickness in Crouzon-Pfeiffer Syndrome: Findings in Relation to Primary Cranial Vault Expansion
• Craniofacial reconstructions in children with craniosynostosis
• Craniofacial, oral, and cervical morphological characteristics in Japanese patients with Apert syndrome or Crouzon syndrome
• Craniosynostosis Develops in Half of Infants Treated for Hydrocephalus with a Ventriculoperitoneal Shunt
• Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics
• De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
• De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
• Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date
• Differential diagnosis of syndromic craniosynostosis: a case series
• Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study
• ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities
• Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population
• External cranial expansion as treatment of intracranial hypertension. Technical note
• First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1
• Flexible endoscope-assisted suture release and barrel stave osteotomy for the correction of sagittal synostosis
• Frontofacial Monobloc Advancement With Internal Distraction: Surgical Technique and Osteotomy Guide
• Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss
• Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation
• Genetic bases of craniosynostoses: An update
• Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder
• Genetic mutation of Frem3 does not causeFraser syndrome in mice
• Hydrocephalus treatment in patients with craniosynostosis: an analysis from the Hydrocephalus Clinical Research Network prospective registry
• Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism
• Intraoperative absent bilateral medial recti in syndromic craniosynostosis
• Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome
• Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?
• Kallmann Syndrome with Syndactyly
• Management of Paronychia in Patients With Apert Syndrome
• Maturation and circuit integration of transplanted human cortical organoids
• Minimally Invasive Endoscopic Surgery for Infantile Craniosynostosis: A Longitudinal Cohort Study
• Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing
• Monobloc Differential Distraction Osteogenesis
• Morbidity Associated With Anterior Versus Posterior Cranial Vault Expansion for Early Treatment of Syndromic Craniosynostosis: A Systematic Review and Meta-Analysis
• Morphology of the Occipital Bones and Foramen Magnum Resulting From Premature Minor Suture Fusion in Crouzon Syndrome
• Multidisciplinary care for a patient with syndromic craniosynostosis: A case report with 20 years of special care
• Multiple synostoses syndrome: Clinical report and retrospective analysis
• Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis
• Natural Progression and Symptomatic Management of Tarsal-Carpal Coalition Syndrome: A Case Report
• Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome
• NGS targeted screening of 100 Scandinavian patients with coronal synostosis
• Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes
• Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report
• Outcomes following Craniosynostosis Surgery at a Tertiary Care Center in the Middle East
• Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes
• Perioperative management and complication control of Le Fort Ⅲ osteotomy in children with syndromic craniosynostosis
• Pharmacological targeting of KDM6A and KDM6B, as a novel therapeutic strategy for treating craniosynostosis in Saethre-Chotzen syndrome
• Practical Algorithm for the Management of Multisutural Craniosynostosis with Associated Chiari Malformation and/or Hydrocephalus
• Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it
• Progressive Postnatal Pansynostosis in Crouzon Syndrome
• Proximal symphalangism and premature ovarian failure
• Reference ranges for standard-echocardiography in pugs and impact of clinical severity of Brachycephalic Obstructive Airway Syndrome (BOAS) on echocardiographic parameters
• Serum nickel is associated with craniosynostosis risk: Evidence from humans and mice
• Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome
• Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report
• Sporting activity after craniosynostosis surgery in children: a source of parental anxiety
• Stapedectomy in Teunissen-Cremers Syndrome: Intraoperative Findings and Hearing Outcomes
• Surgical Considerations for Massive Tarsal Coalitions in Multiple Synostosis Syndrome: A Case Report
• Talocalcaneal Tarsal Coalition Size: Evaluation and Reproducibility of MRI Measurements
• Tarsal-carpal coalition syndrome: a familial case
• Tarsal-carpal coalition syndrome: importance of early diagnosis
• Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation
• Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder
• The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility
• The Monobloc Distraction With Facial Bipartition: Outcomes of Simultaneous Multidimensional Facial Movement Compared With Monobloc Distraction or Facial Bipartition Alone
• The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function
• Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene
• Ultra-early synostectomy and cranial remodeling orthoses in the management of craniosynostoses
• Update in Management of Craniosynostosis
• Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations
• Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
• Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1
• Wrist denervation in isolation: a prospective outcome study with patient selection by wrist blockade