UID:
edoccha_9958113501302883
Format:
1 online resource (178 p.)
ISBN:
1-283-15338-6
,
9786613153388
,
3-8055-8654-X
Series Statement:
Monographs in human genetics,
Content:
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.
Note:
Description based upon print version of record.
,
""Cover""; ""Contents""; ""Editorial""; ""Preface""; ""History of Noonan Syndrome and Related Disorders""; ""Abstract""; ""Noonan Syndrome (NS)""; ""LEOPARD Syndrome""; ""Cardio-Facio-Cutaneous Syndrome (CFC)""; ""Costello Syndrome""; ""Neurofibromatosis-Noonan Syndrome (NF-NS)""; ""Discussion""; ""Conclusion""; ""References""; ""The Clinical Phenotype of Noonan Syndrome""; ""Abstract""; ""Craniofacial Features""; ""Cardiovascular Anomalies""; ""Growth and Feeding""; ""Development and Behaviour""; ""Ocular Anomalies""; ""Hearing""; ""Musculoskeletal Findings""; ""Central Nervous System""
,
""Genitourinary System""""Gastrointestinal System""; ""Skin""; ""Lymphatics""; ""Hematology � Oncology""; ""Immunological Findings""; ""Prenatal Period""; ""Reference""; ""Molecular Genetics of Noonan Syndrome""; ""Abstract""; ""Identification of the Noonan Syndrome Disease Genes: A Brief History""; ""PTPN11""; ""KRAS""; ""SOS1""; ""RAF1""; ""MEK1""; ""Concluding Remarks""; ""Acknowledgements""; ""References""; ""Genotype-Phenotype Correlations in Noonan Syndrome""; ""Abstract""; ""NS and the PTPN11 Gene""; ""Clinical Presentation of NS Patients with PTPN11 Gene Mutations""
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""Genotype-Phenotype Correlation""""NS and the KRAS Gene""; ""Clinical Presentation of NS Patients with KRAS Gene Mutation""; ""Genotype-Phenotype Correlation""; ""NS and the SOS1 Gene""; ""Clinical Presentation of NS Patients with SOS1 Gene Mutation""; ""Genotype-Phenotype Correlation""; ""NS and the RAF1 Gene""; ""Clinical Presentation of NS Patients with RAF1 Gene Mutation""; ""Genotype-Phenotype Correlation""; ""NS and the MEK1 Gene""; ""Conclusions""; ""Acknowledgements""; ""References""; ""LEOPARD Syndrome: Clinical Aspects and Molecular Pathogenesis""; ""Abstract""
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""Historical Background, Definition and Epidemiology""""Clinical Description""; ""Clinical Diagnosis""; ""Differential Diagnosis""; ""Genetic Counseling""; ""LEOPARD Syndrome-Disease Genes""; ""PTPN11""; ""RAF1""; ""Genotype-Phenotype Correlations""; ""Consequences of LEOPARD Syndrome-Causing Mutations on RAS Signaling""; ""PTPN11""; ""RAF1""; ""Acknowledgements""; ""References""; ""The Clinical Phenotype of Cardiofaciocutaneous Syndrome (CFC)""; ""Abstract""; ""Clinical Diagnosis""; ""Prenatal History""; ""Growth""; ""Development""; ""Facial Features""; ""Cardiovascular Features""
,
""Neurological Features""""Ectodermal Features""; ""Ophthalmologic Features""; ""Gastrointestinal Features""; ""Renal Features""; ""Skeletal Features""; ""Malignancy""; ""Natural History""; ""Conclusions""; ""References""; ""Molecular Causes of the Cardio-Facio-Cutaneous Syndrome""; ""Abstract""; ""Overview of the Clinical Diagnosis of CFC Syndrome""; ""Molecular Clues to the Genetic Etiology""; ""Molecular Pathology of CFC Syndrome""; ""BRAF Mutations""; ""MEK1 and MEK2 Mutations""; ""KRAS Mutations""; ""Making the Molecular Diagnosis of CFC Syndrome""
,
""Future Directions and Possible Therapies for CFC""
,
English
Additional Edition:
ISBN 3-8055-8653-1
Language:
English
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