Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation

Congenital disorders of glycosylation (CDG) is a group inherited disorders. It is characterized by multi-organ dysfunction with significant morbidity and mortality. MAN2B2-CDG caused by pathogenic variants in the MAN2B2 gene was a rare CDG. To date, only one case of MAN2B2-CDG was reported. The repr...

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Detalles Bibliográficos
Autores principales: Tian, Qi, Shu, Li, Shu, Chuqiang, Xi, Hui, Ma, Na, Mao, Xiao, Wang, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689725/
https://www.ncbi.nlm.nih.gov/pubmed/35637269
http://dx.doi.org/10.1038/s41431-022-01125-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689725/
https://www.ncbi.nlm.nih.gov/pubmed/35637269
http://dx.doi.org/10.1038/s41431-022-01125-7

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