The phenotype-genotype relationship in severe congenital neutropenia patients

BARIŞ S., Aydiner E. K., KIYKIM A., Cagan H. H., Boztug K., Barlan I.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, vol.47, no.4, pp.272-277, 2012 (SCI-Expanded, Scopus, TRDizin) identifier identifier

  • Publication Type: Article / Article
  • Volume: 47 Issue: 4
  • Publication Date: 2012
  • Doi Number: 10.4274/tpa.822
  • Journal Name: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.272-277
  • Keywords: G6PC3, HAX1, Kostmann disease, severe congenital neutropenia, MUTATIONS, G6PC3
  • Istanbul University-Cerrahpasa Affiliated: No

Abstract

Aim: Severe congenital neutropenia is a rare hereditary disease presenting with infections such as sepsis, abscess, omphalitis and gingivitis in early life. We evaluated the association between clinical findings and mutations in our patients with severe congenital neutropenia.