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Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay
De novo sequence variants, including truncating and splicing variants, in the additional sex-combs like 3 gene (ASXL3) have been described as the cause of Bainbridge-Ropers syndrome (BRS). This pathology is characterized by delayed psychomotor development, severe intellectual disability, growth dela...
Gorde:
| Argitaratua izan da: | Mol Med Rep |
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| Egile Nagusiak: | , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
D.A. Spandidos
2019
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6579994/ https://ncbi.nlm.nih.gov/pubmed/31180560 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2019.10303 |
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