Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering clinicians an expert resource for both clinical diagnosis and laboratory confirmation.
Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering clinicians an expert resource for both clinical diagnosis and laboratory confirmation.Hinweis: Dieser Artikel kann nur an eine deutsche Lieferadresse ausgeliefert werden.
Giovanni Neri, MD, is a Senior Genetics Scholar at the JC Self Research Institute of Human Genetics, Greenwood Genetic Center; and Professor (retired) of Medical Genetics, Universita Cattolica del S. Cuore, Roma. Luigi Boccuto, MD, is a Research Scientist at the JC Self Research Institute of Human Genetics, Greenwood Genetic Center. Roger E. Stevenson, MD, is a Senior Clinical Geneticist at the JC Self Research Institute of Human Genetics, Greenwood Genetic Center.
Inhaltsangabe
Preface 1. Overview on Overgrowth and Overgrowth Syndromes Luigi Boccuto, Giovanni Neri, Roger E. Stevenson 2. Selection of Less-Prevalent Overgrowth Syndromes Roger E. Stevenson, Bryan D. Hall 3. Beckwith-Wiedemann Syndrome Allessandro Mussa, Jennifer M. Kalish, Flavia Cerrato, Andrea Riccio, Giovanni Battista Ferrero 4. Sotos Syndrome Pablo Lapunzina, Jair A. Tenorio 5. Weaver Syndrome and EZH2-Related Overgrowth Syndromes David D. Weaver 6. Simpson-Golabi-Behmel Syndrome Giovanni Neri 7. Perlman Syndrome Giovanni Neri 8. Malan Syndrome Manuela Priolo, Martin Zenker, Raoul C. Hennekam 9. PTEN-Related Overgrowth Syndromes Lamis Yehia, Joanne Ngeow, Charis Eng 10. Lateralized Overgrowth - Hemihypertrophy and Hemihyperplasia Jennifer M. Kalish, Giovanni Battista Ferrero, Alessandro Mussa 11. Proteus Syndrome Leslie G. Biesecker 12. PIK3CA-Related Overgrowth Spectrum Kim M. Keppler-Noreuil 13. Vascular Anomalies Lara Wine Lee, Cameron Trenor Index
Preface 1. Overview on Overgrowth and Overgrowth Syndromes Luigi Boccuto, Giovanni Neri, Roger E. Stevenson 2. Selection of Less-Prevalent Overgrowth Syndromes Roger E. Stevenson, Bryan D. Hall 3. Beckwith-Wiedemann Syndrome Allessandro Mussa, Jennifer M. Kalish, Flavia Cerrato, Andrea Riccio, Giovanni Battista Ferrero 4. Sotos Syndrome Pablo Lapunzina, Jair A. Tenorio 5. Weaver Syndrome and EZH2-Related Overgrowth Syndromes David D. Weaver 6. Simpson-Golabi-Behmel Syndrome Giovanni Neri 7. Perlman Syndrome Giovanni Neri 8. Malan Syndrome Manuela Priolo, Martin Zenker, Raoul C. Hennekam 9. PTEN-Related Overgrowth Syndromes Lamis Yehia, Joanne Ngeow, Charis Eng 10. Lateralized Overgrowth - Hemihypertrophy and Hemihyperplasia Jennifer M. Kalish, Giovanni Battista Ferrero, Alessandro Mussa 11. Proteus Syndrome Leslie G. Biesecker 12. PIK3CA-Related Overgrowth Spectrum Kim M. Keppler-Noreuil 13. Vascular Anomalies Lara Wine Lee, Cameron Trenor Index
Es gelten unsere Allgemeinen Geschäftsbedingungen: www.buecher.de/agb
Impressum
www.buecher.de ist ein Internetauftritt der buecher.de internetstores GmbH
Geschäftsführung: Monica Sawhney | Roland Kölbl | Günter Hilger
Sitz der Gesellschaft: Batheyer Straße 115 - 117, 58099 Hagen
Postanschrift: Bürgermeister-Wegele-Str. 12, 86167 Augsburg
Amtsgericht Hagen HRB 13257
Steuernummer: 321/5800/1497