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Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation
BACKGROUND: NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor growth. This study presents a 10-month-old female...
में बचाया:
| में प्रकाशित: | BMC Med Genet |
|---|---|
| मुख्य लेखकों: | , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2020
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7310492/ https://ncbi.nlm.nih.gov/pubmed/32576142 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01067-1 |
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