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LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition
Wolf-Hirschhorn syndrome (WHS) represents an archetypical example of a contiguous gene deletion disorder – a condition comprising a complex set of developmental phenotypes with a multigenic origin. Epileptic seizures, intellectual disability, growth restriction, motor delay and hypotonia are major c...
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| Main Authors: | , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
The Company of Biologists Limited
2014
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4007405/ https://ncbi.nlm.nih.gov/pubmed/24626991 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.014464 |
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