Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signaling (Monographs in Human Genetics Vol 17)

cover......Page 1
Title.pdf......Page 2
1 History of Noonan Syndrome and Related Disorders......Page 12
The Clinical Phenotype of Noonan Syndrome......Page 20
3 Molecular Genetics of Noonan Syndrome......Page 31
4 Genotype-Phenotype Correlations in Noonan Syndrome......Page 51
5 LEOPARD Syndrome Clinical Aspects and Molecular Pathogenesis......Page 66
6 The Clinical Phenotype of Cardiofaciocutaneous Syndrome (CFC)......Page 77
7 Molecular Causes of the Cardio-Facio-Cutaneous Syndrome......Page 84
8 The Clinical Phenotype of Costello Syndrome......Page 94
9 The Molecular Basis of Costello Syndrome......Page 105
10 Endocrine Regulation of Growth and Short Stature in Noonan Syndrome......Page 115
11 The Heart in Ras-MAPK Pathway Disorders......Page 120
12 Myeloproliferative Disease and Cancer in Persons with Noonan Syndrome and Related Disorders......Page 130
13 Neurofibromatosis Type 1-Noonan Syndrome Whats the Link......Page 139
14 Animal Models for Noonan Syndrome and Related Disorders......Page 149
15 Towards a Treatment for RAS-MAPK Pathway Disorders......Page 162
Author Index......Page 176
Subject Index......Page 177