Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency

Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency

Background: The molybdenum cofactor (Moco) deficiency in humans results in the inactivity of molybdenum-dependent enzymes and is caused by pathogenic variants in MOCS1 (Molybdenum cofactor synthesis 1), MOCS2 (Molybdenum cofactor synthesis 2), and GPHN (Gephyrin). These genes along with MOCS3 (Molyb...

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Bibliographic Details
Main Authors: Qi Tian, Yang Cao, Li Shu, Yongjun Chen, Ying Peng, Yaqin Wang, Yuanyuan Chen, Hua Wang, Xiao Mao
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Genetics
Subjects:
MOCS3
neurodevelopmental outcome
sulfite oxidase
whole exome sequencing
molybdenum cofactor deficiency
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.651878/full

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