ArticleJournal of oral biology and craniofacial research
Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report.
Article in Journal of oral biology and craniofacial research. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Apert Syndrome: Oral, Maxillofacial and Dental Management-A Narrative Clinical Review.Clinics and practice · 2026Review
- Prenatal diagnosis of apert syndrome at 23 weeks: a case report with isolated syndactyly and sacrococcygeal appendage preceding cranial malformation.AME case reports · 2026Article
- Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.Frontiers in medicine · 2025Article
- Visual Impairment in Women with Turner Syndrome-A 49-Year Literature Review.Journal of clinical medicine · 2024Review
- FGF signaling in cranial suture development and related diseases.Frontiers in cell and developmental biology · 2023Review
- Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation.Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India · 2021Article
- Fibroblast Growth Factor Receptor 2 (International journal of biological sciences · 2017Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
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Abstract
Human genetic disease needs differential diagnosis to optimize clinical management, enable prenatal detection, and genetic counselling. The current methods of robust DNA sequencing also require next generation phenotyping to match with for better interpretation of genotypic and phenotypic heterogeneity commonly observed. We report use of human ontology based phenotypic characterization with Phenomizer that gives statistical score for possible diagnoses based on which, the gene mutation was studied. A case of craniosynostosis which refers to a group of syndromes characterized by a premature fusion of skull was studied. The phenotypic features viz, dental crowding and dental malocclusion, bulbous nose, downslanted palpebral fissures, radial deviation of thumb, syndactyly of fingers, macrocephaly, and oxycephaly were entered to query the web-based tool
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