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

• Main Authors: Lesley Hart (Author), Anita Rauch (Author), Antony M. Carr (Author), Joris R. Vermeesch (Author), Mark O'Driscoll (Author)
• פורמט: ספר
• יצא לאור: The Company of Biologists, 2014-05-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

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...