Article
Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion.
American journal of medical genetics. Part A - 1 Jul 2014
Titheradge Hannah, Togneri Fiona, McMullan Dominic, Brueton Louise, Lim Derek, Williams Denise
Abstract excerpt
Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder with variable expressivity. It is characterized by dysgenesis of the anterior segment of the eye together with dental, cardiac, and umbilical anomalies. There is a high incidence of secondary high tension glaucoma. It is a genetically heterogeneous condition due to deletion or mutations of FOXC1 (6p25) or PITX2 (4q25). We report on four unrelated...
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