The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene

Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features. This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanthosi...

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Detalles Bibliográficos
Autores principales: Eun, So-Hee, Ha, Ki Ssu, Je, Bo-Kyung, Lee, Eung Seok, Choi, Byung Min, Lee, Jung Hwa, Eun, Baik-Lin, Yoo, Kee Hwan
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2007
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2693607/
https://www.ncbi.nlm.nih.gov/pubmed/17449949
http://dx.doi.org/10.3346/jkms.2007.22.2.352

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2693607/
https://www.ncbi.nlm.nih.gov/pubmed/17449949
http://dx.doi.org/10.3346/jkms.2007.22.2.352

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