ArticleIndian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India2021
Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation.
Article in Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.Orphanet journal of rare diseases · 2022Review
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5 authors.
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Abstract
Apert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner. This article describes a novel clinical variant of Apert syndrome having bilateral symmetrical tripod-shaped syndactyly in hands with milder craniofacial features in a sporadic case, along with a mutation in the fibroblast growth factor receptor 2 (
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