A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3mutations

被引：0

作者：

Siddharth Banka

William G Newman

机构：

[1] University of Manchester,Manchester Centre for Genomic Medicine, Institute of Human Development

[2] Central Manchester University Hospitals NHS Foundation Trust,Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, St. Mary’s Hospital

来源：

Orphanet Journal of Rare Diseases | / 8卷

关键词：

Ubiquitously expressed glucose-6-phosphatase enzyme; G-6-Pase; G-6-Pase 3; G6PC3; Severe congenital neutropenia type 4; Neutropenia; Dursun syndrome; Prominent superficial venous pattern; Congenital cardiac defects; Uro-genital anomalies;

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摘要：

The G6PC3 gene encodes the ubiquitously expressed glucose-6-phosphatase enzyme (G-6-Pase β or G-6-Pase 3 or G6PC3). Bi-allelic G6PC3 mutations cause a multi-system autosomal recessive disorder of G6PC3 deficiency (also called severe congenital neutropenia type 4, MIM 612541). To date, at least 57 patients with G6PC3 deficiency have been described in the literature.

引用

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