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Literature DB >> 18247426

Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.

Renata Fonseca¹, Marcelo A Costa-Lima, Viviana Cosentino, Iêda M Orioli.

Abstract

Beare-Stevenson syndrome is characterized by cutis gyrata, acanthosis nigricans, skin furrows, skin tags, craniosynostosis, Crouzonoid-like features in some cases and cloverleaf skull in others, anogenital anomalies, and prominent umbilical stump. Reported causes are an FGFR2 Tyr375Cys mutation in nine cases and an FGFR2 Ser372Cys mutation in one case. Here, we report on a second patient with the FGFR2 Ser372Cys mutation. (c) 2008 Wiley-Liss, Inc.

Entities: Disease Gene Mutation Species

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Year: 2008 PMID： 18247426 DOI： 10.1002/ajmg.a.32176

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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Cited

6 in total

1. Atypical Skin Manifestations in FGFR2-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.

Authors: Shannon LeBlanc; David David; Alison Colley; Michael Buckley; Tony Roscioli; Christopher Barnett
Journal: Mol Syndromol Date: 2018-04-24

2. Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

Authors: Anne Slavotinek; Howard Crawford; Mahin Golabi; Cathy Tao; Hazel Perry; Sneha Oberoi; Karin Vargervik; Michael Friez
Journal: Am J Med Genet A Date: 2009-08 Impact factor: 2.802

3. p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.

Authors: Yingli Wang; Xueyan Zhou; Kurun Oberoi; Robert Phelps; Ross Couwenhoven; Miao Sun; Amélie Rezza; Greg Holmes; Christopher J Percival; Jenna Friedenthal; Pavel Krejci; Joan T Richtsmeier; David L Huso; Michael Rendl; Ethylin Wang Jabs
Journal: J Clin Invest Date: 2012-05-15 Impact factor: 14.808

Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.

1. Atypical Skin Manifestations in FGFR2-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.

2. Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

3. p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.

4. Characterization of pathogenic germline mutations in human protein kinases.

Review 5. Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.

6. De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome.