Vol 70, No 5 (2019)
Clinical vignette
Published online: 2019-06-12
Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage — coincidental finding or new feature of known syndrome?
Abstract
Not available
References
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- Kerzendorfer C, Colnaghi R, Abramowicz I, et al. Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. DNA Repair (Amst). 2013; 12(8): 637–644.
- Sanchez JC, Kwan EX, Pohl TJ, et al. Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast. PLoS Genet. 2017; 13(10): e1007041.
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