HAX-1 deficiency: Characteristics of five cases including an asymptomatic patient
Tarih
2016Yazar
Öner, Ozlem
Keskindemirci, Gonca
AKINEL, Aysenur
Bornaun, Helen
Hocaoglu, Arzu Babayigit
Kutluk, Gunsel
Aydoğmuş, Cigdem
Çipe, Funda
TAS, Melda
Üst veri
Tüm öğe kaydını gösterÖzet
Background: Mutations in the HAX-1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN), which particularly manifests with recurrent skin, lung and deep tissue infections from the first few months of life.
Koleksiyonlar
- Makale [92796]