Article
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.
Human mutation - 1 Jan 2013
Capo-Chichi José-Mario, Bharti Sanjay Kumar, 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
Abstract excerpt
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 pigmentation. Here, using homozygosity mapping in a Lebanese consanguineous family followed by exome sequencing, we...
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