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A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome
The phenotype of patients with a chromosome 1q43q44 microdeletion (OMIM; 612337) is characterized by intellectual disability with no or very limited speech, microcephaly, growth retardation, a recognizable facial phenotype, seizures, and agenesis of the corpus callosum. Comparison of patients with d...
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| Main Authors: | , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2014
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4023223/ https://ncbi.nlm.nih.gov/pubmed/24193349 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.249 |
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