Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.

Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.

The management of a 1-year-old boy with Crouzonoid features is presented with a description of molecular genetic investigations that revealed a previously unreported mutation of the fibroblast growth factor receptor 2 (FGFR2) gene encoding the amino acid substitution p.Cys62Arg within the immunoglob...

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Chi tiết về thư mục
Những tác giả chính:	Sharma, V, Wall, SA, Lord, H, Lester, T, Wilkie, A
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	2012

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