期刊
NATURE GENETICS
卷 43, 期 4, 页码 356-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.775
关键词
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资金
- MRC
- Lister Institute of Preventative Medicine
- MRC [MC_PC_U127580972, MC_U127580972] Funding Source: UKRI
- Medical Research Council [MC_PC_U127580972, MC_U127580972] Funding Source: researchfish
Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears(1-3). Both pre- and post-natal growth are impaired in this disorder, and although microcephaly is often evident, intellect is usually normal in this syndrome. We report here that individuals with this disorder show marked locus heterogeneity, and we identify mutations in five separate genes: ORC1, ORC4, ORC6, CDT1 and CDC6. All of these genes encode components of the pre-replication complex, implicating defects in replication licensing as the cause of a genetic syndrome with distinct developmental abnormalities.
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