caa a22 4500 47584663X CHVBK 20180406123916.0 cr unu---uuuuu 170329e20001001xx s 000 0 eng 10.1007/PL00000647 doi (NATIONALLICENCE)springer-10.1007/PL00000647 Rieger syndrome: a clinical, molecular, and biochemical analysis [Elektronische Daten] [B.A. Amendt, E.V. Semina, W.L.M. Alward] Abstract.: Rieger syndrome (RIEG 1; MIM 180500) is an autosomal dominant disorder of morphogenesis. It is a phenotypically heterogeneous disorder characterized by malformations of the eyes, teeth, and umbilicus. RIEG belongs to the Axenfeld-Rieger group of anomalies, which includes Axenfeld anomaly and Rieger anomaly (or Rieger eye malformation), which display ocular features only. Recently, mutations in the homeodomain transcription factor, PITX2, have been shown to be associated with Rieger syndrome. This review discusses the clinical manifestations of Rieger syndrome and how they correlate with the current molecular and biochemical studies on this human disorder. Birkhäuser Verlag Basel,, 2000 Key words. Rieger syndrome nationallicence PITX2 nationallicence homeodomain nationallicence human disorder nationallicence Amendt B.A. Department of Biological Sciences, The University of Tulsa, 600 S. College Ave., Tulsa (Oklahoma 74104-3189, USA), Fax +918 631 2762, e-mail: brad-amendt@utulsa.edu, US aut Semina E.V. Departments of Pediatrics, and Ophthalmology and Visual Sciences, University of Iowa, 51 Newton Road, Iowa City (Iowa 52242, USA), US aut Alward W.L.M. Departments of Pediatrics, and Ophthalmology and Visual Sciences, University of Iowa, 51 Newton Road, Iowa City (Iowa 52242, USA), US aut https://doi.org/10.1007/PL00000647 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00000647 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Amendt B.A. Department of Biological Sciences, The University of Tulsa, 600 S. College Ave., Tulsa (Oklahoma 74104-3189, USA), Fax +918 631 2762, e-mail: brad-amendt@utulsa.edu, US aut NATIONALLICENCE 700 1- Semina E.V. Departments of Pediatrics, and Ophthalmology and Visual Sciences, University of Iowa, 51 Newton Road, Iowa City (Iowa 52242, USA), US aut NATIONALLICENCE 700 1- Alward W.L.M. Departments of Pediatrics, and Ophthalmology and Visual Sciences, University of Iowa, 51 Newton Road, Iowa City (Iowa 52242, USA), US aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer