Emery and Rimoins Principles and Practice of Medical Genetics and Genomics

Klappentext

Emery and Rimoins Principles and Practice of Medical Genetics and Genomics: Developmental Disorders, Seventh Edition is distinguished as the ultimate resource for clinicians integrating genetics into medical practice. This updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications in medicine more broadly. Users will find comprehensive sections on medical genetics applied to a range of developmental disorders and an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Updated chapters on human developmental genetics as well as the genetics of sexual development, clefting, dental, and craniofacial syndromes, craniosynostosis, rasopathies, sex-chromosome abnormalities, and autosomal deletions, among other disorders are included.

Inhalt

1. Genetics of Developmental Disorders (overview) 2. Human Developmental Genetics 3. Abnormal body size and proportion 4. Clefting, Dental, and Craniofacial Syndromes 5. Craniosynostosis 6. Dental Disorders 7. Genetics of Sexual Development 8. Rasopathies 9. A Clinical Approach to the Dysmorphic Child 10. Autosomal Trisomies 11. Sex-Chromosome Abnormalities 12. Deletions and Other Structural Abnormalities of the Autosomes