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ISBN 10: 3805590415
ISBN 13: 9783805590419
Author: M. Cappa, M. Maghnie, S. Loche, G.F. Bottazzo, P.-E. Mullis
In recent years a significant improvement in the understanding of genetics and developmental syndromes has been seen. In this context, the study of endocrinological aspects in patients with genetic syndromes is acquiring increasing significance. This book documents a workshop held in Rome in April 2008 and presents recent advances in the study of developmental syndromes and epigenetics. Contributions by international experts focus on the genetic aspects of Beckwith-Wiedemann, Silver-Russel, Prader-Willi and Angelman syndromes and many more. Providing an eclectic update on the endocrine involvement in developmental syndromes, this book will be of interest to clinicians and researchers in endocrinology, pediatrics and genetics.
Inherited and Sporadic Epimutations at the IGF2-H19 Locus in Beckwith-Wiedemann Syndrome and Wilms’ Tumor
Epigenetic Regulation of Growth: Lessons from Silver-Russell Syndrome
Genetic Imprinting: The Paradigm of Prader-Willi and Angelman Syndromes
Muscle Involvement and IGF-1 Signaling in Genetic Disorders: New Therapeutic Approaches
Mitochondrial Encephalomyopathies and Related Syndromes: Brief Review
Overgrowth Syndromes: A Classification
C-Type Natriuretic Peptide and Overgrowth
Role of Transcription Factors in Midline Central Nervous System and Pituitary Defects
Developmental Abnormalities of the Posterior Pituitary Gland
endocrine development
endocrine system development
developmental aspects of the endocrine system
endocrine disorders in infants
developmental aspects of the endocrine system answers
Tags: Cappa, Maghnie, Loche, Bottazzo, Involvement
