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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Bibliografiske detaljer
Main Authors: Hart, Lesley, Rauch, Anita, Carr, Antony M., Vermeesch, Joris R., O’Driscoll, Mark
Format: Artigo
Sprog:Inglês
Udgivet: The Company of Biologists Limited 2014
Fag:
Research Article
Online adgang: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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