Mutations in the G6PC3 gene cause Dursun syndromeCitation formats

Standard

Mutations in the G6PC3 gene cause Dursun syndrome. / Banka, Siddharth; Newman, William G.; Özgül, R. Koksal; Dursun, Ali.

In: American Journal of Medical Genetics, Part A, Vol. 152, No. 10, 10.2010, p. 2609-2611.

Research output: Contribution to journalArticle

Harvard

Banka, S, Newman, WG, Özgül, RK & Dursun, A 2010, 'Mutations in the G6PC3 gene cause Dursun syndrome', American Journal of Medical Genetics, Part A, vol. 152, no. 10, pp. 2609-2611. https://doi.org/10.1002/ajmg.a.33615

APA

Banka, S., Newman, W. G., Özgül, R. K., & Dursun, A. (2010). Mutations in the G6PC3 gene cause Dursun syndrome. American Journal of Medical Genetics, Part A, 152(10), 2609-2611. https://doi.org/10.1002/ajmg.a.33615

Vancouver

Banka S, Newman WG, Özgül RK, Dursun A. Mutations in the G6PC3 gene cause Dursun syndrome. American Journal of Medical Genetics, Part A. 2010 Oct;152(10):2609-2611. https://doi.org/10.1002/ajmg.a.33615

Author

Banka, Siddharth ; Newman, William G. ; Özgül, R. Koksal ; Dursun, Ali. / Mutations in the G6PC3 gene cause Dursun syndrome. In: American Journal of Medical Genetics, Part A. 2010 ; Vol. 152, No. 10. pp. 2609-2611.

Bibtex

@article{b0753622c1074d3887e134ab206affd2,
title = "Mutations in the G6PC3 gene cause Dursun syndrome",
abstract = "Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. Here we demonstrate that mutations in G6PC3 cause Dursun syndrome. Mutations in G6PC3 are known to also cause severe congenital neutropenia type 4. Identification of the genetic basis of Dursun syndrome expands the pre-existing knowledge about the phenotypic effects of mutations in G6PC3. We propose that Dursun syndrome should now be considered as a subset of severe congenital neutropenia type 4 with pulmonary hypertension as an important clinical feature. {\textcopyright} 2010 Wiley-Liss, Inc.",
keywords = "Dursun syndrome, G6PC3, Glucose-6-phosphatase, Primary pulmonary hypertension, Severe congenital neutropenia",
author = "Siddharth Banka and Newman, {William G.} and {\"O}zg{\"u}l, {R. Koksal} and Ali Dursun",
year = "2010",
month = oct
doi = "10.1002/ajmg.a.33615",
language = "English",
volume = "152",
pages = "2609--2611",
journal = "American Journal of Medical Genetics. Part A",
issn = "1552-4825",
publisher = "John Wiley & Sons Ltd",
number = "10",

}

RIS

TY - JOUR

T1 - Mutations in the G6PC3 gene cause Dursun syndrome

AU - Banka, Siddharth

AU - Newman, William G.

AU - Özgül, R. Koksal

AU - Dursun, Ali

PY - 2010/10

Y1 - 2010/10

N2 - Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. Here we demonstrate that mutations in G6PC3 cause Dursun syndrome. Mutations in G6PC3 are known to also cause severe congenital neutropenia type 4. Identification of the genetic basis of Dursun syndrome expands the pre-existing knowledge about the phenotypic effects of mutations in G6PC3. We propose that Dursun syndrome should now be considered as a subset of severe congenital neutropenia type 4 with pulmonary hypertension as an important clinical feature. © 2010 Wiley-Liss, Inc.

AB - Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. Here we demonstrate that mutations in G6PC3 cause Dursun syndrome. Mutations in G6PC3 are known to also cause severe congenital neutropenia type 4. Identification of the genetic basis of Dursun syndrome expands the pre-existing knowledge about the phenotypic effects of mutations in G6PC3. We propose that Dursun syndrome should now be considered as a subset of severe congenital neutropenia type 4 with pulmonary hypertension as an important clinical feature. © 2010 Wiley-Liss, Inc.

KW - Dursun syndrome

KW - G6PC3

KW - Glucose-6-phosphatase

KW - Primary pulmonary hypertension

KW - Severe congenital neutropenia

U2 - 10.1002/ajmg.a.33615

DO - 10.1002/ajmg.a.33615

M3 - Article

C2 - 20799326

VL - 152

SP - 2609

EP - 2611

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

IS - 10

ER -