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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: Hart, Lesley, Rauch, Anita, Carr, Antony M., Vermeesch, Joris R., O’Driscoll, Mark
格式: Artigo
語言:Inglês
出版: The Company of Biologists Limited 2014
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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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