期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 152A, 期 10, 页码 2609-2611出版社
WILEY
DOI: 10.1002/ajmg.a.33615
关键词
Dursun syndrome; severe congenital neutropenia; G6PC3; glucose-6-phosphatase; primary pulmonary hypertension
资金
- NIHR Manchester Biomedical Research Centre
- State Planning Organisation of Turkey [DPT 2006K120640]
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. (C) 2010 Wiley-Liss, Inc.
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