A novel CUL4B splice site variant in a young male exhibiting less pronounced features

Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in CUL4B, which was s...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genome Var
Prif Awduron: Nakamura, Yuji, Okuno, Yusuke, Muramatsu, Hideki, Kawai, Tomoko, Satou, Kazuhito, Ieda, Daisuke, Hori, Ikumi, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Takahashi, Yoshiyuki, Kojima, Seiji, Saitoh, Shinji
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2019
Pynciau:
Data Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6804535/
https://ncbi.nlm.nih.gov/pubmed/31645981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0074-6
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