Introduction vii1 Basics and Terminology 12 Physical Examination 213 Clinical Diagnosis and Manifestations of Specific Conditions 494 Causes of Genetic Conditions and Laboratory and Testing Approaches 855 Management of Genetic Conditions and Therapeutics 1296 Inheritance, Risk, and Related Calculations 143Index 163
Benjamin D. Solomon, MD has worked in academia, government, healthcare, and biotech. He has had leadership roles at the National Human Genome Research Institute, the Inova Translational Medicine Institute, and at GeneDx, Inc. He is Editor-in-Chief for the American Journal of Medical Genetics.