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TCF12 microdeletion in a 72‐year‐old woman with intellectual disability
Heterozygous mutations in TCF12 were recently identified as an important cause of craniosynostosis. In the original series, 14% of patients with a mutation in TCF12 had significant developmental delay or learning disability. We report on the first case of TCF12 microdeletion, detected by array‐compa...
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| 發表在: | Am J Med Genet A |
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| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2015
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4654244/ https://ncbi.nlm.nih.gov/pubmed/25871887 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37083 |
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