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Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features – postulated by Bainbridge et al. to be overlapping with Bohring–Opitz syndrome –...
Gorde:
| Argitaratua izan da: | Eur J Hum Genet |
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| Egile Nagusiak: | , , , , , , , , , , , , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group
2017
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5255962/ https://ncbi.nlm.nih.gov/pubmed/27901041 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.165 |
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