Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders

BACKGROUND: PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid glycans. The mutations of PMM2-CDG might lead to the loss of PMM2, which is res...

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Detalles Bibliográficos
Autores principales: Zhang, Zhen, Huang, Ti-Long, Ma, Jing, He, Wen-Ji, Gu, Huaiyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854748/
https://www.ncbi.nlm.nih.gov/pubmed/31727010
http://dx.doi.org/10.1186/s12881-019-0902-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854748/
https://www.ncbi.nlm.nih.gov/pubmed/31727010
http://dx.doi.org/10.1186/s12881-019-0902-z

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