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Fonseca RF, Costa-Lima MA, Pereira ET, et al. Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene. Mol Med Rep. 2008;1(5):753-5doi: 10.3892/mmr_00000024.
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(5), 753-5. https://doi.org/10.3892/mmr_00000024
Fonseca, Renata Fragelli, et al. "Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene." Molecular medicine reports vol. 1,5 (2008): 753-5. doi: https://doi.org/10.3892/mmr_00000024
Fonseca RF, Costa-Lima MA, Pereira ET, Castilla EE, Orioli IM. Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene. Mol Med Rep. 2008 Sep-Oct;1(5):753-5. doi: 10.3892/mmr_00000024. PMID: 21479481.
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Mol Med Rep. 2008 Sep-Oct;1(5):753-5. doi: 10.3892/mmr_00000024.

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

Molecular medicine reports

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

Affiliations

  1. ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Universidade Federal do Rio de Janeiro, Avenida Brigadeiro Trompowski s/n, Cidade Universitária, Rio de Janeiro, CEP 21944-970, Brazil.

PMID: 21479481 DOI: 10.3892/mmr_00000024

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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