Article
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
European journal of human genetics : EJHG - 1 Jun 2012
de Munnik Sonja A, Bicknell Louise S, Aftimos Salim, Al-Aama Jumana Y, van Bever Yolande, Bober Michael B, Clayton-Smith Jill, 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, Schoots Jeroen, 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 an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and short stature. Recently, mutations in five genes from the pre-replication complex (ORC1, ORC4, ORC6, CDT1, and CDC6), crucial in cell-cycle progression and growth, were identified in individuals with MGS. Here, we report on genotype-phenotype studies in 45 individuals with MGS (27 females, 18...
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