Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report

Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report

Background: Polydactyly and syndactyly, which are commonly encountered congenital limb deformities, rarely occur together and are linked with significant genetic mutations. This report sheds light on a unique co-presentation involving mutations in both the GLI3 and TBX5 genes, offering a deeper unde...

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Bibliographic Details
Main Authors: R. Leonardi, G. Pellino, E. Floridia, M. Lo Bianco, M. Ruggieri, SY. Cho, V. Pavone, P. Pavone, A. Polizzi
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2025-03-01
Series:Global Medical Genetics
Subjects:
Poly-syndactyly
Congenital Limb Malformations
Genetic Variants in Limb Development
Pediatric Orthopedics
Case reports
Online Access:http://www.sciencedirect.com/science/article/pii/S269994042400033X
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http://www.sciencedirect.com/science/article/pii/S269994042400033X

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