The phenotype-genotype relationship in severe congenital neutropenia patients

BARIŞ S., Aydiner E., Kiykim A., Çaǧan H. H., Boztug K., Barlan I.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.47, sa.4, ss.272-277, 2012 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Sayı: 4
  • Basım Tarihi: 2012
  • Doi Numarası: 10.4274/tpa.822
  • Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.272-277
  • Anahtar Kelimeler: G6PC3, HAX1, Kostmann disease, severe congenital neutropenia, MUTATIONS, G6PC3
  • Marmara Üniversitesi Adresli: Evet

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.