Noonan Syndrome and Related Disorders is popular PDF and ePub book, written by Martin Zenker in 2009, it is a fantastic choice for those who relish reading online the Medical genre. Let's immerse ourselves in this engaging Medical book by exploring the summary and details provided below. Remember, Noonan Syndrome and Related Disorders can be Read Online from any device for your convenience.
Noonan Syndrome and Related Disorders Book PDF Summary
In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes. A historical overview given by Jacqueline Noonan is followed by chapters dedicated to comprehensive clinical summaries of each condition and up-to-date reviews on associated gene mutations and molecular pathomechanisms. Genotypephenotype correlations are outlined. Further topics include the characterization and underlying mechanisms of common abnormalities in these syndromes such as growth failure, heart defects, and tumor risk. Animal models and the relation to neurofibromatosis type 1 are discussed. The final chapter covers the critical area of treatment including prospects emerging from an improved understanding of the pathophysiology of these disorders. Providing a concise overview of a very rapidly developing field and suggesting ways how to integrate the latest findings from basic molecular research into clinical practice, this book will be of interest to clinical geneticists, pediatricians, pediatric cardiologists, and pediatric endocrinologists, as well as to human molecular geneticists and other basic researchers working on the RAS pathway.
Detail Book of Noonan Syndrome and Related Disorders PDF
- Author : Martin Zenker
- Release : 22 September 2024
- Publisher : Karger Medical and Scientific Publishers
- ISBN : 9783805586535
- Genre : Medical
- Total Page : 178 pages
- Language : English
- PDF File Size : 8,7 Mb
If you're still pondering over how to secure a PDF or EPUB version of the book Noonan Syndrome and Related Disorders by Martin Zenker, don't worry! All you have to do is click the 'Get Book' buttons below to kick off your Download or Read Online journey. Just a friendly reminder: we don't upload or host the files ourselves.