Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers

Apert syndrome (AS), also known as type I acrocephalosyndactyly, is a rare congenital condition characterized by craniosynostosis resulting from missense mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. This comprehensive review delves into AS, covering its clinical manifestations,...

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Detalles Bibliográficos
Autores principales: Kumari, Kajol, Saleh, Inam, Taslim, Sanzida, Ahmad, Sana, Hussain, Iqbal, Munir, Zainab, Javed, Tamleel, Virk, Muhammad Furqan Ismat, Javed, Saleha, Bisharat, Pakeezah, Ur Rehman, Ubaid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10656109/
https://www.ncbi.nlm.nih.gov/pubmed/38021759
http://dx.doi.org/10.7759/cureus.47281

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