Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation.

Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.

Stem cell-associated osteogenic deficiency causes craniofacial deformities with progeroid accumulation of prelamin A.

Neurodevelopmental outcomes in children with craniosynostosis: a retrospective cross-sectional analysis.

Complications Following Congenital Hand and Upper Limb Surgery: Lessons From the CoULD Registry.

Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis.

Biphasic effects on human atrial arrhythmogenicity of L-type calcium channel mutations associated with a Brugada/Short QT overlap syndrome - insights from a multiscale simulation study.

Epidemiology of dento-skeletal dysmorphoses in children treated for craniosynostosis in infancy.

Long-term outcome in 415 operated cases with single suture scaphocephaly.

Rare features in Feingold syndrome type 1.

A Clinically Relevant Classification System for Pediatric Talocalcaneal Coalition.

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

Generation of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis.

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.

Highlighting posterior cranial vault expansion remodeling for treating various types of craniosynostosis in children.

Long-term neurocognitive and behavioral outcomes in patients with non-syndromic craniosynostosis.

Disruptions in primary visual cortex physiology and function in a mouse model of Timothy syndrome.

Identification of a Novel FGFR2 Gene Mutation (c.514_515delinsCT, p.Ala172Leu) in a Chinese Neonate With Apert Syndrome: A Case Report.

Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46,XX Patients.

Evaluation of CACNA1C-Positive Patients Evaluated in a Tertiary Genetic Heart Rhythm Clinic.

Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly.

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis.

Insight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness.

Skull Base and Craniocervical Anomalies in Syndromic Craniosynostosis.

Non-syndromic craniosynostosis.

The Efficacy of Postoperative Helmet Therapy After Open Cranial Vault Remodeling for Nonsyndromic Craniosynostosis.

[A case report of Muenke syndrome with soft cleft palate and literature review].

Factors That may be Associated With Tracheal Decannulation Failure in Dogs Requiring Temporary Tracheostomy After Upper Airway Surgery for Brachycephalic Obstructive Airway Syndrome.

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations.

Autologous Fat Graft Combined With Botulinum Toxin Injection for Breast Augmentation in Poland Syndrome: A Prospective and Comparative Study.

Synaptic plasticity deficits in a mouse model of Timothy syndrome: LTP saturation and its pharmacological rescue by nifedipine.

Treatment resistant depression: A case of Muenke syndrome.

Impact of Lefort III/ monobloc advancement on midface growth in children with syndromic craniosynostosis: A systematic review.

A morphometric analysis of the cranial base in trigonocephaly.

A Preliminary Study of Hearing Loss in Children With Craniosynostosis.

Intraoperative Skull Fracture During Halo Application in Subcranial Le Fort III: Strategies for Managing a Rare Complication.

Craniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients.

Rotational osteotomy of forearm bones for treatment of congenital radioulnar synostosis in children.

A novel computational model of swine ventricular myocyte reveals new insights into disease mechanisms and therapeutic approaches in Timothy Syndrome.

Free-floating bone flap posterior cranial vault release in syndromic craniosynostosis.

A Natural History Study of Timothy Syndrome.

Comparative Analysis of Patient-reported Outcomes After Cranial Vault Remodeling and Strip Craniectomy With the FACE-Q Craniofacial Module.

Anesthetic Management of a Pediatric Patient With Pfeiffer Syndrome.

Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).

Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.

Posterior Cranial Vault Distractor Osteogenesis for the Treatment of Chiari Malformation Type 1: A Systematic Review of the Literature.

Frontal Bone Resorption after Frontofacial Monobloc Advancement in FGFR -Related Craniosynostoses: Predictive Factors.

Tracheal Ultrasound for Diagnosis of Tracheal Cartilaginous Sleeve in Patients with Syndromic Craniosynostosis.

Optic Nerve Head Morphological Variation in Craniosynostosis: A Cohort Study.

Cranial bone microarchitecture in a mouse model for syndromic craniosynostosis.

Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A (p.G406R) mutation.

Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling.

Epidemiologic Assessment of Craniosynostosis in Mississippi's Pediatric Population from 2015 to 2020.

Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.

Nonsyndromic Craniosynostosis Correlation Between Ethnicity, Race, and Pattern of Affected Suture Type: Meta-Analysis.

Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.

Antisense oligonucleotide therapeutic approach for Timothy syndrome.

Neurocognitive outcomes and associated clinical factors 5 years after surgery in children with craniosynostosis.

A second hotspot for pathogenic exon-skipping variants in CDC45.

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.

Dosage-dependent effects of FGFR2W290R mutation on craniofacial shape and cellular dynamics of the basicranial synchondroses.

Prospective Evaluation of Health-Related Quality-of-Life in Children with Craniosynostosis.

Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.

Ser252Trp mutation in fibroblast growth factor receptor 2 promotes branching morphogenesis in mouse salivary glands.

A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia.

A missense GDF5 variant causes brachydactyly type A1 and multiple-synostoses syndrome 2.

International Cohort of Neonatal Timothy Syndrome.

Strabismus and refraction in non-syndromic craniosynostosis - A longitudinal study up to 5 years of age.

LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17.

Spring-assisted posterior vault expansion: a parametric study to improve the intracranial volume increase prediction.

A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.

Clinical and operative risk factors for complications after Apert hand syndactyly reconstruction.

Prenatal diagnostic approaches diagnosed craniosynostosis and identified a novel nonsense variant in SMAD6 in a Chinese fetus.

[Studies of sleep and therapeutic actions in children and adolescents with craniofacial anomalies].

Surgery of Cranial Deformity Following Ventricular Shunting: A Multicenter Study.

Genetic diagnostic yield in an 11-year cohort of craniosynostosis patients.

A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant.

[Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1].

Facial Fat Graft Injection Reduces Asymmetry and Improves Forehead Contour in Early Infancy Apert Syndrome Patients.

Genetic Subtypes of Apert Syndrome Are Associated With Differences in Airway Morphology and Early Upper Airway Obstruction.

Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway.

Exosome-mediated small interfering RNA delivery inhibits aberrant osteoblast differentiation in Apert syndrome model mice.

Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.

Same Gene, Different Story (a Case Report of Congenital Long QT Syndrome Subtype 8 With a Novel Mutation).

Neurogenic hypertension characterizes children with congenital central hypoventilation syndrome and is aggravated by alveolar hypoventilation during sleep.

Facial skeleton dysmorphology in syndromic craniosynostosis: differences between FGFR2 and no-FGFR2-related syndromes and relationship with skull base and facial sutural patterns.

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.

Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.

Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant.

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.

Congenital Proximal Radioulnar Synostosis in an Elite Athlete-Case Report.

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

Fusion of Lateral Calvarial Sutures on Volume-Rendered Computed Tomography Reconstructions in Patients With Known Craniosynostosis.

Heart Rate Variability Analysis May Identify Individuals With Williams-Beuren Syndrome at Risk of Sudden Death.

Apert Syndrome Type III Hand: Prevalence and Outcomes.

Does the Mutation Type Affect the Response to Cranial Vault Expansion in Children With Apert Syndrome?

Discussion of "Does the Mutation Type Affect the Response to Cranial Vault Expansion in Children With Apert Syndrome?".

Practical Algorithm for the Management of Multisutural Craniosynostosis with Associated Chiari Malformation and/or Hydrocephalus.

Correlation among Poincare plot and traditional heart rate variability indices in adults with different risk levels of metabolic syndrome: a cross-sectional approach from Southern India.

CACNA1C-Related Channelopathies.

Molecular Mechanisms Involved in Craniosynostosis.

Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.

Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are EFNB1 Variants Associated with Autoimmunity?

External-internal cranial expansion to treat patients with craniocerebral disproportion due to post-shunt craniosynostosis: a case series.

Synchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis.

Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly.

Classic Timothy Syndrome Associated With Bilateral Border Digit Syndactyly: A Case Series.

Amount of reoperation following surgical repair of nonsyndromic craniosynostosis at a single center.

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.

Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports.

FGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome.

CaV1.2 channelopathic mutations evoke diverse pathophysiological mechanisms.

The CaV1.2 G406R mutation decreases synaptic inhibition and alters L-type Ca2+ channel-dependent LTP at hippocampal synapses in a mouse model of Timothy Syndrome.

The Oberg, Manske, and Tonkin Classification of Congenital Upper Limb Anomalies: A Consensus Decision-Making Study for Difficult or Unclassifiable Cases.

Clinical and genetic approach in the characterization of newborns with anorectal malformation.

Behavioral, Learning Skills, and Visual Improvement in Crouzon Syndrome Patient Following Late Posterior Vault Distraction Osteogenesis.

A neutralizing epitope on the SD1 domain of SARS-CoV-2 spike targeted following infection and vaccination.

Drosophila Homolog of the Human Carpenter Syndrome Linked Gene, MEGF8, Is Required for Synapse Development and Function.

The foramen magnum in scaphocephaly.

Factors Affecting Optic Nerve Damage in Le Fort III Osteotomy: A Retrospective Study.

Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects.

Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.

Lacrimo-auriculo-dento-digital syndrome with AIRE mutation: A case report.

Intrafamilial variability in six family members with ERF-related craniosynostosis syndrome type 4.

Severity of nasopharyngeal collapse before and after corrective upper airway surgery in brachycephalic dogs.

[A case of Pfeiffer syndrome caused by FGFR2 gene variation].

Update in Management of Craniosynostosis.

[Clinical and genetic analysis of two rare male patients with Rett syndrome].

Processes and patterns: Insights on cranial covariation from an Apert syndrome mouse model.

Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.

[Perioperative management and complication control of Le Fort Ⅲ osteotomy in children with syndromic craniosynostosis].

A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome.

Variations in Paranasal Sinus Anatomy in Children With Apert Syndrome: A Radiological Analysis.

A retrospective magnetic resonance imaging analysis of bone and soft tissue changes associated with the spectrum of tarsal coalitions.

Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.

Crouzon's Syndrome with a Dominant Sinus Pericranii Draining Transverse Sinus: Report of a Rare Association and Review of Literature.

Posterior Vault Distraction Outcomes in Patients With Severe Crouzon Syndrome Resulting from Ser347Cys and Ser354Cys Mutations.

FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model.

Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.

Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based Study.

Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report.

Orbitofacial morphology changes with different suture synostoses in Crouzon syndrome.

Excessive osteoclast activation by osteoblast paracrine factor RANKL is a major cause of the abnormal long bone phenotype in Apert syndrome model mice.

Elevated Intracranial Pressure in Patients with Craniosynostosis by Optical Coherence Tomography.

Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome.

Quantitative Morphologic Analysis of Cranial Vault in Twist1+/- Mice: Implications in Craniosynostosis.

Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.

Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report.

Embryonic requirements for Tcf12 in the development of the mouse coronal suture.

Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.

Use of ranolazine as rescue therapy in a patient with Timothy syndrome type 2.

Syndromic Craniosynostosis: Objective and Parent-Reported Outcome Measurements after Cranio-Facial Remodelling Surgeries.

Characterization of Treatment Modalities for Patients With Syndromic Craniosynostosis in Relation to Degree of Midface Hypoplasia and Patient's Age Using Longitudinal Follow-Up Data.

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.

[Apert syndrome or acrocephalosyndactilia type I].

GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment.

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.

Surgical Result and Identification of FGFR2 Variants Using Whole-Exome Sequencing in a Chinese Family With Crouzon Syndrome.

siRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference.

Venous anomalies in hypoplastic posterior fossa: unsolved questions.

Does different cranial suture synostosis influence orbit volume and morphology in Apert syndrome?

Premature Fusion of the Sagittal Suture as an Incidental Radiographic Finding in Young Children.

[The role of RIPK4 in epidermis physiology].

Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.

Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages.

Health-related quality of life in children after surgical treatment of non-syndromal craniosynostosis.

The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review.

Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation.

Apert Syndrome Outcomes: Comparison of Posterior Vault Distraction Osteogenesis Versus Fronto Orbital Advancement.

Complex craniosynostosis in the context of Carpenter's syndrome.

Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care.

Prenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature.

Functional and morphological changes in hypoplasic posterior fossa.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Craniosynostosis Develops in Half of Infants Treated for Hydrocephalus with a Ventriculoperitoneal Shunt.

Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome.

Expanding the phenotype of CACNA1C mutation disorders.

Impact of health disparities on treatment for single-suture craniosynostosis in an era of multimodal care.

A Rare Case Of Shprintzen-Goldberg Syndrome.

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.

Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.

A Ser252Trp substitution in mouse FGFR2 results in hyperplasia of embryonic salivary gland parenchyma.

Prevalence of Hand Malformations in Patients With Moebius Syndrome and Their Management.

A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies.

Robinow syndrome in a newborn presenting with hydrocephalus and craniosynostosis.

Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletine.

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

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.

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.

Emissary veins and pericerebral cerebrospinal fluid in trigonocephaly: do they define a specific subtype?

Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.

Growth patterns of the airway in Crouzon syndrome patients with different types of cranial vault suture synostosis.

Carpenter syndrome in a patient from Tanzania.

Fracture in Humeroradial Synostosis: Description of Two Clinical Cases.