Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-018-0128-0.pdf
Reference15 articles.
1. Reynolds JJ, Bicknell LS, Carroll P, et al. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nat Genet. 2017;49:537–49.
2. Evrony GD, Cordero DR, Shen J, et al. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Res. 2017;27:1323–35.
3. Ives EJ, Houston CS. Autosomal recessive microcephaly and micromelia in Cree Indians. Am J Med Genet. 1980;7:351–60.
4. Harley ME, Murina O, Leitch A, et al. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet. 2016;48:36–43.
5. Klingseisen A, Jackson AP. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev. 2011;25:2011–24.
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1. DONSON: Slding in 2 the limelight;DNA Repair;2024-02
2. Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports;Annals of Medicine & Surgery;2023-10-04
3. DONSON is required for CMG helicase assembly in the mammalian cell cycle;EMBO reports;2023-10-02
4. DONSON is required for CMG helicase assembly in the mammalian cell cycle;2023-08-17
5. Novel role of DONSON in CMG helicase assembly during vertebrate DNA replication initiation;The EMBO Journal;2023-07-17
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