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, cilt.47, sa.4, ss.272-277, 2012 (SCI İndekslerine Giren Dergi) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Konu: 4
  • Basım Tarihi: 2012
  • Doi Numarası: 10.4274/tpa.822
  • Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Sayfa Sayıları: ss.272-277

Özet

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.