Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five‐generation family

OBJECTIVE: Craniosynostosis is the result of the early fusion of cranial sutures. Syndromic craniosynostosis includes but not limited by Crouzon syndrome and Pfeiffer syndrome. Considerable phenotypic overlap exists among these syndromes and mutations in FGFR2 may cause different syndromes. This stu...

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Detalles Bibliográficos
Autores principales: Wei, Xianda, Huang, Guori, Gui, Baoheng, Xie, Bobo, Chen, Shaoke, Fan, Xin, Chen, Yujun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000941/
https://www.ncbi.nlm.nih.gov/pubmed/35235708
http://dx.doi.org/10.1002/mgg3.1901

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000941/
https://www.ncbi.nlm.nih.gov/pubmed/35235708
http://dx.doi.org/10.1002/mgg3.1901

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