Disease: Familial Treacher Collins syndrome
- <em>TCOF1</em> Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery
- "I can't provide what my child needs": Early feeding experiences of caregivers of children with craniofacial microsomia
- 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
- A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report
- A new treatment strategy for hemifacial microsomia: Auricular reconstruction with an expanded two-flap method and simultaneous mandibular distraction osteogenesis
- A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
- A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly
- A novel familial mutation associated with Treacher Collins syndrome: A case report
- A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome
- A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects
- A Novel Missense Variant in the <em>TCOF1</em> Gene in one Chinese Case With Treacher Collins Syndrome
- A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome
- A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient
- A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome
- A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
- A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome
- Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism
- Analysis of TCOF1 mutation in a Chinese patient with Treacher-Collins syndrome
- Auricular reconstruction with modified expanded two-flap method in Goldenhar Syndrome: 7-Year experiences
- Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature
- Behavioral Adjustment of Preschool Children With and Without Craniofacial Microsomia
- Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings
- Clinical and cytogenomic findings in OAV spectrum
- Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene
- Comprehensive analysis of syndromic hearing loss patients in Japan
- Congenital Auricular Malformations: Description of Anomalies and Syndromes
- Damaging variants in FOXI3 cause microtia and craniofacial microsomia
- De novo TCOF1 mutation in Treacher Collins syndrome
- Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3
- Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing
- Early Experiences of Parents of Children With Craniofacial Microsomia
- Efficacy of navigation system-assisted distraction osteogenesis for hemifacial microsomia based on artificial intelligence for 3 to 18 years old: study protocol for a randomized controlled single-blind trial
- European Guideline on Craniofacial Microsomia: A Version for Patients and Families
- Evaluation of prenatal diabetes mellitus and other risk factors for craniofacial microsomia
- Expanding the Etiology of Oculo-Auriculo-Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36
- Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome
- Gene testing in Treacher Collins syndrome
- Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type
- Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome
- Goldenhar syndrome: the importance of an ophthalmological approach
- Haploinsufficiency of SF3B2 causes craniofacial microsomia
- Healthcare and psychosocial experiences of individuals with craniofacial microsomia: Patient and caregivers perspectives
- Hemifacial microsomia is linked to a rare homozygous variant V162I in FRK and validated in zebrafish
- Hemifacial microsomia treated with a hybrid technique combining distraction osteogenesis and a mandible-guided functional appliance: Pilot study
- Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia
- Identification of a de novo PUF60 variant associated with craniofacial microsomia
- Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome
- Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome
- Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance
- Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome
- Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree
- In Their Own Words: Caregiver and Patient Perspectives on Stressors, Resources, and Recommendations in Craniofacial Microsomia Care
- Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia
- Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a <em>POLR1D</em> p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis
- Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a POLR1D p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis
- Long-term efficacy of glycopyrrolate on sialorrhea in Goldenhar syndrome: a case report
- Mandibulofacial Dysostosis
- Mandibulofacial Dysostosis
- Mandibulofacial Dysostosis Attributed to a Recessive Mutation of <em>CYP26C1</em> in Hereford Cattle
- Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle
- Mandibulofacial dysostosis Bauru type: Refining the phenotype
- Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey
- Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
- Microduplication of 7q36.3 encompassing the SHH long-range regulator (ZRS) in a patient with triphalangeal thumb-polysyndactyly syndrome and congenital heart disease
- Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease
- Microtia and craniofacial microsomia: Content analysis of facebook groups
- Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report
- Molecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective
- Multicorrection Goldenhar syndrome (facio-auriculo-vertebral dysplasia): a rare follow-up case of 12-year-old female
- Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients
- Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1
- Neural Crest
- Neurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities
- Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease
- Parental Reports of Intervention Services and Prevalence of Teasing in a Multinational Craniofacial Microsomia Pediatric Study
- Patient-Reported Quality of Life in the Highest Functioning Patients With Treacher Collins Syndrome
- Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome
- Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India
- Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review
- Prenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study
- Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies
- Proposed clinical approach and imaging studies in families with oculo-auriculo-vertebral spectrum to assess variable expressivity
- Psychosocial and Health-Related Experiences of Individuals With Microtia and Craniofacial Microsomia and Their Families: Narrative Review Over 2 Decades
- Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene
- School participation among young people with craniofacial microsomia and other childhood-onset disabilities
- Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A
- Stress in Parents of a Child with Hemifacial Microsomia: The Role of Child Characteristics and Parental Coping Strategies
- Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing
- Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses
- TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery
- TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect
- The etiology research progress of oculo-auriculo-vertebral spectrum
- The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later
- The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions
- TMJ Ankylosis Following Mandibular Distraction Osteogenesis: Management With Simultaneous Midface External Distraction and Bilateral Temporomandibular Joint Replacement
- Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes
- Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients
- Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome
- Use of adipose derived stem cells in Treacher Collins syndrome
- Whole-exome sequencing for monozygotic twins discordant for hemifacial microsomia