Mutations in the G6PC3 gene cause Dursun syndrome

Volume: 152A, Issue: 10, Pages: 2609 - 2611
Published: Aug 26, 2010
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...
Paper Details
Title
Mutations in the G6PC3 gene cause Dursun syndrome
Published Date
Aug 26, 2010
Volume
152A
Issue
10
Pages
2609 - 2611
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