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Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene

  • Authors:
    • Renata Fragelli Fonseca
    • Marcelo Aguiar Costa-Lima
    • Eliana Ternes Pereira
    • Eduardo Enrique Castilla
    • Iêda Maria Orioli

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  • Published online on: September 1, 2008     https://doi.org/10.3892/mmr_00000024
  • Pages: 753-755
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Abstract

Beare-Stevenson syndrome (BSS) (MIM#123790) is a rare disorder characterized by craniofacial anomalies and cutis gyrata associated with anogenital anomalies and prominent umbilical stump. There are few reports on the syndrome, and molecular analysis has revealed the involvement of two closely spaced mutations within the FGFR2 gene: c.1115C↷G (p.S372C) and c.1124C↷G (p.Y375C). We herein describe a new case of a c.1124C↷G mutation in a BSS patient.

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September-October 2008
Volume 1 Issue 5

Print ISSN: 1791-2997
Online ISSN:1791-3004

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  • Journal Metrics
  • Impact Factor: 3.4
  • Ranked Medicine Research and Experimental
    (total number of cites)
  • CiteScore: 6.9
  • CiteScore Rank: Q2: #98/328 Biochemistry, Genetics and Molecular Biology
  • Source Normalized Impact per Paper (SNIP): 0.721
  • SCImago Journal Rank (SJR): 0.65
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Spandidos Publications style
Fonseca RF, Costa-Lima MA, Pereira ET, Castilla EE and Orioli IM: Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene. Mol Med Rep 1: 753-755, 2008
APA
Fonseca, R.F., Costa-Lima, M.A., Pereira, E.T., Castilla, E.E., & Orioli, I.M. (2008). Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene. Molecular Medicine Reports, 1, 753-755. https://doi.org/10.3892/mmr_00000024
MLA
Fonseca, R. F., Costa-Lima, M. A., Pereira, E. T., Castilla, E. E., Orioli, I. M."Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene". Molecular Medicine Reports 1.5 (2008): 753-755.
Chicago
Fonseca, R. F., Costa-Lima, M. A., Pereira, E. T., Castilla, E. E., Orioli, I. M."Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene". Molecular Medicine Reports 1, no. 5 (2008): 753-755. https://doi.org/10.3892/mmr_00000024