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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629761/ https://www.ncbi.nlm.nih.gov/pubmed/29034068 http://dx.doi.org/10.1186/s13229-017-0173-5 |