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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| 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 |