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

Abstract

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

Topics

2 Figures and Tables

Slides referencing similar topics