Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Audrey M. Rutz"'
Publikováno v:
Journal of autism and developmental disorders. 49(2)
Despite current guidelines, few children with autism spectrum disorder (ASD) receive genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs, current practices and perceived barriers of pediatricians regarding genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4f8f69a53a4a5f3b8c2d1350619cf3d
https://pubmed.ncbi.nlm.nih.gov/30173310
https://pubmed.ncbi.nlm.nih.gov/30173310
Publikováno v:
European journal of medical genetics. 62(1)
De novo variants of ASH1L, which encodes a histone methyltransferase, have been reported in a few patients with intellectual disability and autistic features. Here, we identified a novel de novo frame-shift variant, c.2422_2423delAAinsT which predict
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b939846f3e3e3a53b109e7f5a227f2e
https://pubmed.ncbi.nlm.nih.gov/29753921
https://pubmed.ncbi.nlm.nih.gov/29753921