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Keywords: Wolf-Hirschhorn syndrome
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Journal Articles

LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition

Open Access
Lesley Hart, Anita Rauch, Antony M. Carr, Joris R. Vermeesch, Mark O’Driscoll
Journal: Disease Models & Mechanisms
Dis Model Mech (2014) 7 (5): 535–545.
https://doi.org/10.1242/dmm.014464
Published: 1 May 2014
...Lesley Hart; Anita Rauch; Antony M. Carr; Joris R. Vermeesch; Mark O’Driscoll 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...
View articletitled, LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition
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Includes: Supplementary data