The Molecular Mechanisms of Axenfeld-Rieger Syndrome

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The Molecular Mechanisms of Axenfeld-Rieger Syndrome Brad A. Amendt, Ph.D. The Texas A&M University System Health Science Center Institute of Biosciences and Technology Center for Environmental and Genetic Medicine Houston, Texas, U.S.A.

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THE MOLECULAR MECHANISMS OF AXENFELD-RLEGER SYNDROM Medical Intelligence Unit Landes Bioscience / Eurekah.com Springer Science+Business Media, Inc. ISBN: 0-387-26222-9

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Copyright ©2005 Eurekah.com and Springer Science+Business Media, Inc. All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher, except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information s t o r ^ e and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use in the publication of trade names, trademarks, service marks and similar terms even if they are not identified as such, is not to be taken as an expression of opinion as to whether or not they are subject to proprietary rights. While the authors, editors and publisher beHeve that drug selection and dosage and the specifications and usage of equipment and devices, as set forth in this book, are in accord with current recommendations and practice at the time of publication, they make no warranty, expressed or implied, with respect to material described in this book. In view of the ongoing research, equipment development, changes in governmental regulations and the rapid accumulation of information relating to the biomedical sciences, the reader is urged to carefully review and evaluate the information provided herein. Springer Science+Business Media, Inc., 233 Spring Street, New York, New York 10013, U.S.A. http: //www.springeronhne. com Please address all inquiries to the Publishers: Landes Bioscience / Eurekah.com, 810 South Church Street, Georgetown, Texas 78626, U.S.A. Phone: 512/ 863 7762; FAX: 512/ 863 0081 http://www.eurekah.com http://www.landesbioscience.com Printed in the United States of America. 9 8 7 6 5 4 3 2 1

Library of Congress Cataloging-in-Publication Data The molecular mechanisms of Axenfeld-Rieger syndrome / [edited by] Brad A. Amendt. p . ; cm. — (Medical intelligence unit) ISBN 0-387-26222-9 1. Axenfeld-Rieger syndrome—Molecular aspects. I. Amendt, Brad A. II. Series: Medical intelligence unit (Unnumbered : 2003) [DNLM: 1. Abnormalities, Multiple—genetics. 2. Gene Expression Regulation, Developmental—physiology. 3. Transcription Factors—metaboUsm. QS 675 M718 2005] RE906.M66 2005 617.7'042-dc22

2005012665

Dedication We are indebted to the families and individuals who generously provided material for the studies described in this book and to the many geneticists for identifying and counseling patients with Axenfeld-Rieger syndrome. Finally to the memb