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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Detalles Bibliográficos
Autores principales: Tian, Qi, Cao, Yang, Shu, Li, Chen, Yongjun, Peng, Ying, Wang, Yaqin, Chen, Yuanyuan, Wang, Hua, Mao, Xiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8060434/
https://www.ncbi.nlm.nih.gov/pubmed/33897766
http://dx.doi.org/10.3389/fgene.2021.651878

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8060434/
https://www.ncbi.nlm.nih.gov/pubmed/33897766
http://dx.doi.org/10.3389/fgene.2021.651878

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