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Clinical phenotype of ASD-associated DYRK1A haploinsufficiency
BACKGROUND: DYRK1A is a gene recurrently disrupted in 0.1–0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including microcephaly, intellectual disability, speech delay, and facial dysmorphisms. METHODS: Phenotypic informa...
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| Gepubliceerd in: | Mol Autism |
|---|---|
| Hoofdauteurs: | , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2017
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5629761/ https://ncbi.nlm.nih.gov/pubmed/29034068 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13229-017-0173-5 |
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