Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population.

Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.

A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.

Nager Syndrome Revisited: Integrating In Vivo and In Vitro Models to Decipher SF3B4-Dependent Tissue Coordination.

Treacher-Collins Syndrome With Anorectal Malformation: A Rarity and a Challenge for the Surgical Team.

Analysis of Treacher Collins syndrome 4-associated mutations in Schizosaccharomyces pombe.

A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report.

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome.

RNA Polymerase I Dysfunction Underlying Craniofacial Syndromes: Integrated Genetic Analysis Reveals Parallels to 22q11.2 Deletion Syndrome.

Evaluation of masticatory function in the pediatric and adult populations with Treacher Collins syndrome.

Low-Density Instrumentation for Scoliosis Correction in Monozygotic Twins With Treacher Collins Syndrome: A Case Report.

PTBP3 Associated With 9q32 Locus Is a Candidate Gene for Nager Syndrome.

Facial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens.

Gene-environment interactions modulate the phenotype severity in mouse models of congenital craniofacial syndromes.

The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach.

In silico analysis identified potential interaction between glutathione and spliceosome in Nager Syndrome.

Clarifying the Relationship Between Orbito-Zygomatic and Mandibular Dysmorphology in Treacher Collins Syndrome.

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase-3 and Aifm1 Splicing Pathways.

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly.

Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report.

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

Management and Outcomes of Neonates with Treacher Collins and Nager Syndromes.

Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization.

Sialocele formation following facial reconstruction in a patient with Treacher Collins Syndrome.

Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival.

Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation.

[Perioperative management of cochlear implantation and analysis on the influencing factors of efficacy in patients diagnosed as hereditary syndromic hearing loss].

Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption.

Spectrum of Otological Manifestations in Treacher Collins Syndrome: A Case Series of 9 Patients.

Imaging of Treacher Collins syndrome: A case report.

Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.

Most common congenital syndromes with facial asymmetry: A narrative review.

[Treacher Collins Syndrome 2 caused by a novel pathogenic variant in PLOR1D: clinical report and literature review].

The First Patient with Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome Caused by De Novo c.423+4916 T>C ZRS Variant: A Case Report.

Untangling Zebrafish Genetic Annotation: Addressing Complexities and Nomenclature Issues in Orthologous Evaluation of TCOF1 and NOLC1.

RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.

Spliceosomal GTPase Eftud2 deficiency-triggered ferroptosis leads to Purkinje cell degeneration.

Periorbital Outcomes and Vision Risk Stratification in Treacher Collins Syndrome.

Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.

Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review.

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.

p53 inhibitor or antioxidants reduce the severity of ethmoid plate deformities in zebrafish Type 3 Treacher Collins syndrome model.

The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP).

Transcriptomic analysis reveals mitochondrial dysfunction in the pathogenesis of Nager syndrome in sf3b4-depleted zebrafish.

A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.

[Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing].

Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.

Correlation of Cerebrospinal Fluid Total Protein and Serum Neutrophil-to-Lymphocyte Ratio with Clinical Outcomes of Guillain-Barre Syndrome Variants.

Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.

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

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.

Clinical and molecular study of Egyptian patients with Treacher Collins syndrome.

Severity of Mandibular Dysmorphology in Treacher Collins Syndrome for Stratification of Perioperative Airway Risk.

[TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery].

Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.

Mandibular Dysmorphology and Clinical Presentation in Treacher Collins Syndrome.

Obstructive Sleep Apnea in Adults with Treacher Collins Syndrome is Related with Altered Anthropometric Measurements, Increased Blood Pressure and Impaired Quality of Life.

Treacher Collins Syndrome Associated with Disproportionate Nervous System, Cardiovascular, Otologic Complications Among 1,114 Patients.

Prenatal diagnosis of Treacher Collins syndrome: A case report and literature review.

Use of adipose derived stem cells in Treacher Collins syndrome.

Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia.

Esophageal Atresia With or Without Tracheoesophageal Fistula: Comorbidities, Genetic Evaluations, and Neonatal Outcomes.

Bonebridge Implantation in Treacher-Collins Syndrome With Conductive Hearing Loss-Case Report.

Awareness about Patterson syndrome among dental students.

Full Mouth Dental Restoration on a Treacher-Collins Patient Without Intubation.

An automatic facial landmarking for children with rare diseases.

Bite Force, Masticatory Performance, and Nutritional Status of Adult Individuals With Treacher Collins Syndrome.

Treacher Collins syndrome - a case report.

Berry syndrome: a rare cause of cardiac failure in the early neonatal period.

A Possible Incomplete Form of Treacher Collins Syndrome: A Case Report.

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.

Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a POLR1D p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis.

A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.

Combination CPAP and bilateral hypoglossal nerve stimulation for obstructive sleep apnea in Treacher Collins syndrome: first case report.

The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development.

Comprehensive Serial Treatment of Treacher Collins Syndrome.

Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development.

The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.

[Analysis of pathogenic gene variant in two children with Treacher-Collins syndrome].

Dental and health aspects in the co-occurrence of Treacher Collins and Down syndromes: Case report.

A clinically-relevant residue of POLR1D is required for Drosophila development.

Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome.

A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.

Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?

Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study.

SF3B4 Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome.

Tessier's Cleft Number 6 Revisited: A Series of 26 new Cases and Literature Review of 44.

Otodental syndrome: Case report and differential diagnosis with Treacher Collins syndrome.

The Association of Treacher Collins Syndrome in the Media with Public Interest.

The Role of Splicing Factor SF3B4 in Congenital Diseases and Tumors.

Protein-lipid interactions of human dihydroorotate dehydrogenase and three mutants associated with Miller syndrome.

Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome.

Ocular and adnexal anomalies in Treacher Collins syndrome: a retrospective multicenter study.

Prenatal features of mandibulofacial dysostosis Guion-Almeida Type.

[Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].

Characterization of Phenotypes and Treatment Modalities in Patients With Treacher-Collins Syndrome.

Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.

Craniofacial and Upper Airway Development in Patients With Treacher Collins Syndrome.

Three-dimensional comparison of mandibular morphology in young people with Treacher Collins syndrome and Pierre Robin sequence.

Treacher Collins Syndrome: Genetics, Clinical Features and Management.

Disability in a medieval village community: A unique case of facial dysmorphism.

Anesthetic Management of Treacher Collins Syndrome in an Outpatient Surgical Center.

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.

Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia.

A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.

Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome.

Generation of a human induced pluripotent stem cell line (PSHi002-A) from a Treacher-Collins syndrome patient carrying a TCOF1 gene mutation (c.1966_1969dup).

De novo TCOF1 mutation in Treacher Collins syndrome.

Counterclockwise Craniofacial Distraction Osteogenesis.

Treacher Collins Mandibular Distraction.

Long-term treatment outcomes from a patient's perspective with Treacher Collins syndrome.

Molecular mechanisms of hearing loss in Nager syndrome.

Treacher Collins syndrome: Orthodontic treatment with mandibular distraction osteogenesis and orthognathic surgery.

Treacher Collins Syndrome: A Case Report.

The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome.

Treacher Collins Syndrome in the United States: Examining Incidence and Inpatient Interventions.

Extracraniofacial anomalies in Treacher Collins syndrome: A multicentre study of 248 patients.

The role of double-step advancement genioplasty and bilateral coronoidectomy in Nager Syndrome: A case report.

The Role of the U5 snRNP in Genetic Disorders and Cancer.

Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.

[Clinical case: approach to the difficult airway in neonatology. Treacher-Collins syndrome].

[Three-dimensional measurement analysis of midface morphology in Treacher Collins syndromes].

Molecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective.

[Gene testing in Treacher Collins syndrome].

A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.

Functional outcomes in patients with facial dysostosis and severe upper airway obstruction.

Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Assessment of craniofacial and dental characteristics in individuals with treacher collins syndrome. A review.

Infant mandibular distraction in absence of ascending ramus: case series.

How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies.

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.

Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.

134 Cases of Airway Management in Treacher Collins Syndrome: A Single-Institution, 27-Year Experience.

Comparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study.

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.

Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome.

Spliceosomopathies: Diseases and mechanisms.

Imaging of the Fetal Zygomatic Bone: A Key Role in Prenatal Diagnosis of First Branchial Arch Syndrome.

Prevention methods for Treacher Collins syndrome: A systematic review.

Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.

A novel familial mutation associated with Treacher Collins syndrome: A case report.

Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.

Associated syndromes in patients with Pierre Robin Sequence.

Catel-Manzke syndrome without Manzke dysostosis.

[Progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome].

Three-Dimensional Upper Airway Assessment in Treacher Collins Syndrome.

Neurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities.

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.

Mandibulofacial dysostosis with microcephaly: a syndrome to remember.

Visual diagnosis in utero: Prenatal diagnosis of Treacher-Collins syndrome using a 3D/4D ultrasonography.

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect.

Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse.

A Case of Nager Syndrome Diagnosed Before Birth.

[Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome].

Correlation Between Mandible and External Ear in Patients with Treacher-Collins Syndrome.

Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome.

Bilateral Parotid Gland Agenesis in Treacher Collins Syndrome: A Case Report.

Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.

The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.

Endotracheal Intubation Complicated by a Palatal Tooth in a Patient With Treacher Collins Syndrome.

Treacher Collins Syndrome.

Proteasomal inhibition attenuates craniofacial malformations in a zebrafish model of Treacher Collins Syndrome.

Dams TuLip-i™ is a useful device for performing fiberscopy-guided orotracheal intubation in a patient with Treacher Collins syndrome.

Urgent Complex Intraoperative Reintubation in a Known Difficult Airway After Endotracheal Tube Damage: A Case Report.

Difficult airway management in a patient with Treacher Collins syndrome using two-part surgery.

Preferential Associated Malformation in Patients With Anotia and Microtia.

Does an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals?

Assessment of Bioabsorbable Hydroxyapatite for Cranial Defect in Children.

A Novel Human Pluripotent Stem Cell-Derived Neural Crest Model of Treacher Collins Syndrome Shows Defects in Cell Death and Migration.

[Analysis of TCOF1 mutation in a Chinese patient with Treacher-Collins syndrome].

Discussion: Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome.

Computer-Assisted Bilateral Orbitozygomatic Reconstruction in a Patient With Treacher Collins Syndrome Using Bicortical Calvarial Graft.

Oculoauriculovertebral spectrum and maxillary sinus volumes : CT-based comparative evaluation.

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

Modified Lefort Distraction Osteogenesis for the Treatment of Nager Syndrome-Associated Midface Hypoplasia: Technique and Review.

Treacher Collins Syndrome and Tracheostomy: Decannulation Using Mandibular Distraction Osteogenesis.

Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome.

Patient-Reported Quality of Life in the Highest Functioning Patients With Treacher Collins Syndrome.

Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.

Decannulation and Airway Outcomes With Maxillomandibular Distraction in Treacher Collins and Nager Syndrome.

Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.

Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.

Orbital volume and shape in Treacher Collins syndrome.

Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.

Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

Congenital Abnormalities of the Temporomandibular Joint.

Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish.

Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.

Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome.