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Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature
BACKGROUND: Chromosomal deletions encompassing DYRK1A have been associated with intellectual disability for several years. More recently, point mutations in DYRK1A have been shown to be responsible for a recognizable syndrome characterized by microcephaly, developmental delay and intellectual disabi...
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| Foilsithe in: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
BioMed Central
2016
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4769499/ https://ncbi.nlm.nih.gov/pubmed/26922654 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0276-4 |
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