Disease: Craniofrontonasal dysplasia
- A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently
- A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype
- A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate
- A new case of fronto-nasal dysplasia associated with craniosynostosis
- A novel de novo mutation within EFNB1 gene in a young girl with craniofrontonasal syndrome
- A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication
- A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome
- Aberrant cell segregation in the craniofacial primordium and the emergence of facial dysmorphology in craniofrontonasal syndrome
- Anomalous ovarian morphology in a patient with craniofrontonasal syndrome
- Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
- Case report: Craniofrontonasal syndrome caused by a novel variant in the <em>EFNB1</em> gene in a Colombian woman
- Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes
- Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains
- Clinical and genetic analysis of a patient with Craniofrontonasal syndrome
- Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene
- Clinical features of syndromic craniosynostosis
- Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome
- Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <em>EFNB1</em> Variants Associated with Autoimmunity?
- Cortical abnormalities and non-spatial learning deficits in a mouse model of CranioFrontoNasal syndrome
- Cranio-oculo-fronto-nasal malformation: a new MCA condition?
- Craniofacial skeletal dysplasia of opposite-sex dizygotic twins
- Craniofrontonasal dysostosis with deafness and axillary pterygia
- Craniofrontonasal dysostosis: variable expression in a three-generation family
- Craniofrontonasal dysplasia
- Craniofrontonasal dysplasia
- Craniofrontonasal dysplasia
- Craniofrontonasal dysplasia
- Craniofrontonasal dysplasia
- Craniofrontonasal dysplasia
- Craniofrontonasal dysplasia
- Craniofrontonasal dysplasia
- Craniofrontonasal dysplasia associated with Chiari malformation
- Craniofrontonasal dysplasia in a three-generation kindred
- Craniofrontonasal dysplasia in two male sibs
- Craniofrontonasal dysplasia--a distinct entity with lethality in the male?
- Craniofrontonasal dysplasia: a surgical treatment algorithm
- Craniofrontonasal dysplasia: clinical and genetic analysis
- Craniofrontonasal dysplasia: genetic heterogeneity?
- Craniofrontonasal dysplasia: hypertelorism correction in late presenting patients
- Craniofrontonasal dysplasia: more severe expression in the mother than in her son
- Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations
- Craniofrontonasal dysplasia: variability of the frontonasal suture and implications for treatment
- Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox
- Craniofrontonasal syndrome: genetic aspects and description of a clinical case
- Craniomaxillofacial morphology in a murine model of ephrinB1 conditional deletion in osteoprogenitor cells
- Delineation of the male phenotype in carniofrontonasal syndrome
- Depression and hyperactivity in two patients with craniofrontonasal syndrome
- Diverse clinical and genetic aspects of craniofrontonasal syndrome
- EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells
- Experience of surgical treatment for craniofrontonasal dysplasia
- Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation
- First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis
- Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome
- Frontonasal and craniofrontonasal dysplasia: preoperative quantitative description of the cranio-orbito-zygomatic region based on computed and conventional tomography
- Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly?
- Further evidence from two families that craniofrontonasal dysplasia maps to Xp22
- Hypertelorism: nosologic analysis of 90 patients
- Implications for the Multi-Disciplinary Management of Children With Craniofrontonasal Syndrome
- In support of using computer-aided design and modeling for periorbital osteotomies
- Intracranial Volume Measured and Correlated to Cephalic Index in Syndromic and Nonsyndromic Anterior Brachycephaly
- Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation
- Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization
- microRNAs associated with early neural crest development in Xenopus laevis
- Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome
- New autosomal dominant syndrome resembling craniofrontonasal dysplasia
- No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B
- Oblique facial clefting associated with unicoronal synostosis
- Ocular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience
- Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
- Possibly new multiple congenital anomaly syndrome: cranio-fronto-nasal dysplasia with Poland anomaly
- Potential blindness: an unusual complication of lateral canthopexy
- Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype
- Prevalence and causes of visual impairment in craniosynostotic syndromes
- Radiocephalometric findings in a family with craniofrontonasal dysplasia
- Report of a family with craniofrontonasal syndrome
- Report of a Family with Craniofrontonasal Syndrome and Wolff-Parkinson-White Syndrome: Is it a New Finding?
- Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1
- Spring-assisted posterior vault expansion in multisuture craniosynostosis
- Strategy for Bone Conservation in the Two-Stage Correction of Hypertelorism in Craniofrontonasal Dysplasia
- Surgical approach of hypertelorbitism in craniofrontonasal dysplasia
- Surgical Strategies for Soft Tissue Management in Hypertelorbitism
- Syndromic Craniosynostosis: Complexities of Clinical Care
- Teebi hypertelorism syndrome
- Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a U.S. family
- Teebi hypertelorism syndrome: further observations
- The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
- The value of three-dimensional printing modelling for surgical correction of orbital hypertelorism
- Trio-Based Whole-Exome Sequencing Identifies a <em>De novo EFNB1</em> Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay
- Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)
- Twenty-year experience with early surgery for craniosynostosis: II. The craniofacial synostosis syndromes and pansynostosis--results and unsolved problems
- Visual manifestations of craniofrontonasal dysplasia