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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Detalles Bibliográficos
Autores principales: Earl, Rachel K., Turner, Tychele N., Mefford, Heather C., Hudac, Caitlin M., Gerdts, Jennifer, Eichler, Evan E., Bernier, Raphael A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
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

Internet

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

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