Adult siblings with homozygous <it>G6PC3</it> mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

• Main Authors: Fernandez Bridget A (Author), Green Jane S (Author), Bursey Ford (Author), Barrett Brendan (Author), MacMillan Andrée (Author), McColl Sarah (Author), Fernandez Sara (Author), Rahman Proton (Author), Mahoney Krista (Author), Pereira Sergio L (Author), Scherer Stephen W (Author), Boycott Kym M (Author), Woods Michael O (Author)
• Format: Book
• Published: BMC, 2012-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3). Its core features are congenital neutropenia and a prominent venous...