Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al.
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01397-7.pdf
Reference22 articles.
1. De Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, Van Bever Y, Bober MB, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012;20:598–606.
2. Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS. The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome. Eur J Hum Genet. 2023:1–10.
3. Boles RG, Teebi AS, Schwartz D, Harper JF. Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). Clin Dysmorphol. 1994;3:207–14.
4. Bicknell LS, Bongers EMHF, Leitch A, Brown S, Schoots J, Harley ME, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011;43:356–60.
5. Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, et al. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011;43:350–6.
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