José-Mario Capo-Chichi Sanjay Kumar Bharti Joshua A Sommers Tony Yammine Eliane Chouery Lysanne Patry Guy A Rouleau Mark E Samuels Fadi F Hamdan Jacques L Michaud Robert M Brosh Jr André Mégarbane Zoha Kibar
10.1002/humu.22226
Hum Mutat
2013 Jan;34(1):103-7.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/23033317/
Abnormalities, Multiple / genetics DEAD-box RNA Helicases / genetics DNA Helicases / genetics Genetic Predisposition to Disease / genetics Mutation, Missense
Abnormalities, Multiple / genetics DEAD-box RNA Helicases / genetics DNA Helicases / genetics Genetic Predisposition to Disease / genetics Mutation, Missense Case Reports Research Support, Non-U.S. Gov't Abnormalities, Multiple / pathology Amino Acid Sequence Base Sequence Chromosome Breakage Consanguinity DEAD-box RNA Helicases / metabolism DNA Helicases / metabolism Exome / genetics Family Health Female Humans Intellectual Disability Male Pedigree Sequence Analysis, DNA Syndrome DNA Helicases DDX11 protein, human DEAD-box RNA Helicases
PMC4599780
23033317
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome
2013