Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome


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. 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… (More)
DOI: 10.1038/ng.775


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