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Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
BACKGROUND: Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34...
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| Main Authors: | , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2014
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4209064/ https://ncbi.nlm.nih.gov/pubmed/25349628 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0074-7 |
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