Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
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Published:2017-02-13
Issue:4
Volume:49
Page:537-549
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Reynolds John J, Bicknell Louise S, Carroll Paula, Higgs Martin R, Shaheen Ranad, Murray Jennie E, Papadopoulos Dimitrios K, Leitch Andrea, Murina Olga, Tarnauskaitė Žygimantė, Wessel Sarah R, Zlatanou Anastasia, Vernet Audrey, von Kriegsheim Alex, Mottram Rachel M A, Logan Clare VORCID, Bye Hannah, Li Yun, Brean Alexander, Maddirevula Sateesh, Challis Rachel C, Skouloudaki Kassiani, Almoisheer Agaadir, Alsaif Hessa S, Amar Ariella, Prescott Natalie JORCID, Bober Michael B, Duker Angela, Faqeih Eissa, Seidahmed Mohammed Zain, Al Tala Saeed, Alswaid Abdulrahman, Ahmed Saleem, Al-Aama Jumana Yousuf, Altmüller Janine, Al Balwi Mohammed, Brady Angela F, Chessa Luciana, Cox Helen, Fischetto Rita, Heller Raoul, Henderson Bertram D, Hobson Emma, Nürnberg Peter, Percin E Ferda, Peron Angela, Spaccini Luigina, Quigley Alan J, Thakur Seema, Wise Carol A, Yoon Grace, Alnemer Maha, Tomancak PavelORCID, Yigit Gökhan, Taylor A Malcolm R, Reijns Martin A MORCID, Simpson Michael A, Cortez David, Alkuraya Fowzan SORCID, Mathew Christopher GORCID, Jackson Andrew P, Stewart Grant SORCID
Publisher
Springer Science and Business Media LLC
Reference59 articles.
1. Klingseisen, A. & Jackson, A.P. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev. 25, 2011–2024 (2011). 2. O'Driscoll, M., Ruiz-Perez, V.L., Woods, C.G., Jeggo, P.A. & Goodship, J.A. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat. Genet. 33, 497–501 (2003). 3. Ogi, T. et al. Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR–ATRIP Seckel syndrome. PLoS Genet. 8, e1002945 (2012). 4. German, J. Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am. J. Hum. Genet. 21, 196–227 (1969). 5. Harley, M.E. et al. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat. Genet. 48, 36–43 (2016).
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