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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Mol Autism
Hoofdauteurs: Earl, Rachel K., Turner, Tychele N., Mefford, Heather C., Hudac, Caitlin M., Gerdts, Jennifer, Eichler, Evan E., Bernier, Raphael A.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2017
Onderwerpen:
Research
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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items