Article
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Nature genetics - 27 Feb 2011
Bicknell Louise S, Bongers Ernie M H F, Leitch Andrea, Brown Stephen, Schoots Jeroen, Harley Margaret E, Aftimos Salim, Al-Aama Jumana Y, Bober Michael, Brown Paul A J, van Bokhoven Hans, Dean John, Edrees Alaa Y, Feingold Murray, Fryer Alan, Hoefsloot Lies H, Kau Nikolaus, Knoers Nine V A M, Mackenzie James, Opitz John M, Sarda Pierre, Ross Alison, Temple I Karen, Toutain Annick, Wise Carol A, Wright Michael, Jackson Andrew P
Abstract excerpt
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 ears¹⁻³. 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...
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