Educational Games
PKU Game
The Adventure of Poe and Parker was designed to target children diagnosed with PKU. It uses interactive play to teach children about their metabolic condition, its effects and management and that also allows parents (and other caretakers) to learn more about nutritional and medical management.
Syndrome and Gene Disorders
OMIM
Online Mendelian Inheritance in Man. This is a searchable database of genetic syndromes that have a single gene causation. It is the world's premiere catalogue of all reported human single gene disorders.
GeneTests
Clinical genetics DNA diagnostic testing and research information. This site also contains good reviews of common genetic syndromes and disorders.
KUMC Clinical Genetics Resources
Excellent grouping of clinical genetics links, developed by University of Kansas. Good link for chromosome support groups and general genetic information about birth defects.
Registry of Mutation Databases
Listing of all gene mutation databases. Allows one to search for a gene and view known pathogenic mutatations.
Clinical Anatomy and Brain MRI Sites
Medical Biochemistry Resource
This is a good site for understanding biochemical pathways and molecular signaling events: The Medical Biochemistry Page
Books
- Jones, KL. Smith's Recognizable Patterns of Human Malformation. 5th Ed.
- Schinzel A. Unbalanced Chromosome Alterations in Man. 2nd Ed.
- Scriver, Beaudet, Sly and Valle. The Metabolic and Molecular Basis of Inherited Disease. 7th Ed. Vol I-III
- Cassidy and Allanson. Management of Genetic Syndromes. 2nd Ed.
- Gorlin, Cohen, Levin. Syndromes of the Head and Neck. 3rd Ed.
