| 概要 |
G6PC3 deficiency is a syndromic variant of severe congenital neutropenia associated by complex organ malformation. Patients often have cardiac defects such as atrial septal defects, an increased superficial venous marking, and urogenital malformations. In the absence of G6PC3, increased ER stress makes neutrophils prone to undergo apoptosis and leads to defective organ development.
|
|---|
| 著者 |
Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C |
|---|
