Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

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 identifi...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3355263/
https://ncbi.nlm.nih.gov/pubmed/22333897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.269
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