Article
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
American journal of human genetics - 3 Dec 2015
Burrage Lindsay C, Charng Wu-Lin, Eldomery Mohammad K, Willer Jason R, Davis Erica E, Lugtenberg Dorien, Zhu Wenmiao, Leduc Magalie S, Akdemir Zeynep C, Azamian Mahshid, Zapata Gladys, Hernandez Patricia P, Schoots Jeroen, de Munnik Sonja A, Roepman Ronald, Pearring Jillian N, Jhangiani Shalini, Katsanis Nicholas, Vissers Lisenka E L M, Brunner Han G, Beaudet Arthur L, Rosenfeld Jill A, Muzny Donna M, Gibbs Richard A, Eng Christine M, Xia Fan, Lalani Seema R, Lupski James R, Bongers Ernie M H F, Yang Yaping
Abstract excerpt
Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption of the origin of DNA replication initiation. To date, only an autosomal-recessive inheritance pattern has been described in...
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