Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00381-020-04993-w.pdf
Reference42 articles.
1. Allam KA, Wan DC, Khwanngern K, Kawamoto HK, Tanna N, Perry A, Bradley JP (2011) Treatment of Apert syndrome: a long-term follow-up study. Plast Reconstr Surg 127:1601–1611. https://doi.org/10.1097/PRS.0b013e31820a64b6
2. Al-Namnam NM, Hariri F, Thong MK, Rahman ZA (2019) Crouzon syndrome: genetic and intervention review. J Oral Biol Craniofac Res 9:37–39. https://doi.org/10.1016/j.jobcr.2018.08.007
3. Ariga H, Endo Y, Ujiie N, Ishii T, Ishibashi N, Fujita T, Suzuki H (2001) Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2. Pediatr Int 43:293–295. https://doi.org/10.1046/j.1442-200x.2001.01379.x
4. Azoury SC, Reddy S, Shukla V, Deng CX (2017) Fibroblast growth factor receptor 2 (FGFR2) mutation related syndromic craniosynostosis. Int J Biol Sci 13:1479–1488. https://doi.org/10.7150/ijbs.22373
5. Barry GP, Ny BM, Zackai EH, Grunwald L, Forbes BJ (2010) A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings. Ophthalmic Genet 31:193–195. https://doi.org/10.3109/13816810.2010.505225
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