Genetic Conditions > Beare-Stevenson cutis gyrata syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on Beare-Stevenson cutis gyrata syndrome.

Chen L, Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. Review. PubMed citation
Eun SH, Ha KS, Je BK, Lee ES, Choi BM, Lee JH, Eun BL, Yoo KH. The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene. J Korean Med Sci. 2007 Apr;22(2):352-6. PubMed citation
Gene Review: FGFR-Related Craniosynostosis
Hall BD, Cadle RG, Golabi M, Morris CA, Cohen MM Jr. Beare-Stevenson cutis gyrata syndrome. Am J Med Genet. 1992 Sep 1;44(1):82-9. PubMed citation
Izakovic J, Leitner S, Schachner LA. What syndrome is this? Beare-Stevenson cutis gyrata syndrome. Pediatr Dermatol. 2003 Jul-Aug;20(4):358-60. PubMed citation
McGaughran J, Sinnott S, Susman R, Buckley MF, Elakis G, Cox T, Roscioli T. A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype. Clin Dysmorphol. 2006 Apr;15(2):89-93. Review. PubMed citation
Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet. 1996 Aug;13(4):492-4. PubMed citation
Vargas RA, Maegawa GH, Taucher SC, Leite JC, Sanz P, Cifuentes J, Parra M, Muñoz H, Maranduba CM, Passos-Bueno MR. Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. Am J Med Genet A. 2003 Aug 15;121A(1):41-6. PubMed citation
Wang TJ, Huang CB, Tsai FJ, Wu JY, Lai RB, Hsiao M. Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. Clin Genet. 2002 Mar;61(3):218-21. PubMed citation


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