A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient-Reference-Cited by-同舟云学术

A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient

Published:2018 Issue:3 Volume:9 Page:159-163
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Perrone Eduardo,Chen Kelin,Ramos Marco,Milanezi Maria Fernanda,Nakano Viviane,Falconi Ariane,Silva Juliana,Campos Jamille,Silva Celia M.C.,Filho Joao B.O.,Perez Ana B.A.

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. Bayramoğlu A, Saritemur M, Tasdemir S, Omeroglu M, Erdem HB, Sahin I: A rare cause of dyspnea in emergency medicine: Keutel syndrome. Am J Emerg Med 34:935 (2016).

2. Cormode EJ, Dawson M, Lowry RB: Keutel syndrome: clinical report and literature review. Am J Med Genet 24:289-294 (1986).

3. Cranenburg EC, VAN Spaendonck-Zwarts KY, Bonafe L, Mittaz Crettol L, Rödiger LA, et al: Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome. J Thromb Haemost 9:1225-1235 (2011).

4. Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA: A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. Am J Med Genet A 135:36-40 (2005).

5. Khosroshahi HE, Sahin S, Akyuz Y, Ede H: Long term follow-up of four patients with Keutel syndrome. Am J Med Genet A 164A:2849-2856 (2014).

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