Case report of congenital neutropenia type 4 with glucose‐6‐phosphatase catalytic subunit 3 (G6PC3) deficiency
Nabil S. Dhayhi,
Mohammed A. Mahnashi,
Alanoud I. Mokhasha
et al.
Abstract:Key Clinical MessageCongenital neutropenia syndromes encompass a group of genetic disorders characterized by persistent neutropenia and recurrent infections inherited in an autosomal recessive, dominant, or X‐linked manner. These syndromes arise from mutations in various genes, and one of the significant genes involved is glucose‐6‐phosphatase catalytic subunit 3 (G6PC3), giving rise to a condition known as Dursun syndrome. As per existing knowledge, a total of 92 cases of Dursun syndrome have been reported gl… Show more
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