Article
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
American journal of medical genetics. Part A - 1 Nov 2012
de Munnik Sonja A, Otten Barto J, Schoots Jeroen, Bicknell Louise S, Aftimos Salim, Al-Aama Jumana Y, van Bever Yolande, Bober Michael B, Borm George F, Clayton-Smith Jill, Deal Cheri L, Edrees Alaa Y, Feingold Murray, Fryer Alan, van Hagen Johanna M, Hennekam Raoul C, Jansweijer Maaike C E, Johnson Diana, Kant Sarina G, Opitz John M, Ramadevi A Radha, Reardon Willie, Ross Alison, Sarda Pierre, Schrander-Stumpel Constance T R M, Sluiter A Erik, Temple I Karen, Terhal Paulien A, Toutain Annick, Wise Carol A, Wright Michael, Skidmore David L, Samuels Mark E, Hoefsloot Lies H, Knoers Nine V A M, Brunner Han G, Jackson Andrew P, Bongers Ernie M H F
Abstract excerpt
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recently, mutations in the ORC1, ORC4, ORC6, CDT1, and CDC6 genes, encoding components of the pre-replication complex, have been identified. This complex is essential for DNA replication and therefore mutations are expected to impair cell proliferation and...
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