CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA(+) Lon Protease

CODAS syndrome is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. Using whole-exome and Sanger sequencing, we identified four LONP1 mutations inherited as homozygous or compound-heterozygous combinations among ten individuals with C...

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Published in:Am J Hum Genet
Main Authors: Strauss, Kevin A., Jinks, Robert N., Puffenberger, Erik G., Venkatesh, Sundararajan, Singh, Kamalendra, Cheng, Iteen, Mikita, Natalie, Thilagavathi, Jayapalraja, Lee, Jae, Sarafianos, Stefan, Benkert, Abigail, Koehler, Alanna, Zhu, Anni, Trovillion, Victoria, McGlincy, Madeleine, Morlet, Thierry, Deardorff, Matthew, Innes, A. Micheil, Prasad, Chitra, Chudley, Albert E., Lee, Irene Nga Wing, Suzuki, Carolyn K.
Format: Artigo
Language:Inglês
Published: Elsevier 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4289676/
https://ncbi.nlm.nih.gov/pubmed/25574826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.12.003
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