Meier-Gorlin syndrome
Definition:
References:
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[1]. Aimee L Fenwick, et al. Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. Am J Hum Genet. 2016 Jul 7;99(1):125-38. [Content Brief]
[2]. Annalisa Vetro, et al. MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. Eur J Hum Genet. 2017 May;25(5):646-650. [Content Brief]
[3]. Duane L Guernsey, et al. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27;43(4):360-4. [Content Brief]
[4]. Lindsay C Burrage, et al. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 3;97(6):904-13. [Content Brief]
[5]. Louise S Bicknell, 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 Feb 27;43(4):350-5. [Content Brief]
[6]. Louise S Bicknell, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27;43(4):356-9. [Content Brief]
[7]. Sonja A de Munnik, et al. Meier-Gorlin syndrome. Orphanet J Rare Dis. 2015 Sep 17;10:114. [Content Brief]
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