Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene

Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene

Background: FBPase deficiency as an autosomal recessive disorder is due pathogenic variants in the FBP1 gene. It usually presents with hyperlactic acidemia and hypoglycaemia starting from early childhood. Here, genotypes and phenotypes of all reported patients and their distributions are presented....

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Main Authors: Setila Dalili, Nasrin Sedighi Pirsaraei, Ameneh Sharifi, Alireza Pouryousef, Fatemeh Aghaee, Reza Bayat, Babak Ghavami, Bahareh Rabbani, Nejat Mahdieh
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Fructose-1,6-bisphosphatase
FBPase
Whole exome sequencing
Phenotypic variability
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924000892
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