Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome

Mutations in the gene encoding the iron–sulfur-containing DNA helicase DDX11 (ChlR1) were recently identified as a cause of a new recessive cohesinopathy, Warsaw breakage syndrome (WABS), in a single patient with severe microcephaly, pre- and postnatal growth retardation, and abnormal skin pigmentat...

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Pubblicato in:Hum Mutat
Autori principali: Capo-Chichi, José-Mario, Kumar Bharti, Sanjay, Sommers, Joshua A., Yammine, Tony, Chouery, Eliane, Patry, Lysanne, Rouleau, Guy A., Samuels, Mark E., Hamdan, Fadi F., Michaud, Jacques L., Brosh, Robert M., Mégarbane, André, Kibar, Zoha
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4599780/
https://ncbi.nlm.nih.gov/pubmed/23033317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22226
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