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EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
In recent years, several genes have been implicated in the variable disease presentation of global developmental delay (GDD) and intellectual disability (ID). The endoplasmic reticulum membrane protein complex (EMC) family is known to be involved in GDD and ID. Homozygous variants of EMC1 are associ...
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| Veröffentlicht in: | Clin Genet |
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| Hauptverfasser: | , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Blackwell Publishing Ltd
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7756316/ https://ncbi.nlm.nih.gov/pubmed/32869858 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13842 |
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