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

• 主要な著者: Lesley Hart (著者), Anita Rauch (著者), Antony M. Carr (著者), Joris R. Vermeesch (著者), Mark O'Driscoll (著者)
• フォーマット: 図書
• 出版事項: The Company of Biologists, 2014-05-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...