Genetics of Endocrine Diseases and Syndromes / Experientia Supplementum Bd.111 (PDF)
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This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling.
Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases.
A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.
Attila Patocs MD MSc PhD DSc is associate professor of molecular genetics and laboratory medicine at the Department of Laboratory Medicine of Semmelweis University, and also the head of molecular genetics laboratory at the National Institute of Oncology in Budapest. He has boarding exams in laboratory medicine and molecular genetic diagnostics. His research is focused on hereditary cancer syndromes, endocrine tumors and biomarkers. He has published over 180 scientific papers.
- 2019, 1st ed. 2019, 473 Seiten, Englisch
- Herausgegeben: Peter Igaz, Attila Patócs
- Verlag: Springer-Verlag GmbH
- ISBN-10: 3030259056
- ISBN-13: 9783030259051
- Erscheinungsdatum: 06.10.2019
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- Grösse: 9.94 MB
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