2nd ed. Academic Press, 2015.
Resumen (en inglés):
Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders.
The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias.
- Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases
- Teaches the essentials of the genetic basis of disease in each major endocrine organ system
- Offers expert advice from genetic counselors on how to use genetic information in counseling patients
- Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing