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January 30, 2006
Genetics and Craniofacial Disorder Resources
Today we're highlighting a few of the very fine online resources available on these topics. The Genetics Home Reference is a masterful resource made available free by the National Library of Medicine.
NLM: Genetics Home Reference: http://ghr.nlm.nih.gov/
Among their newest topics on conditions, you'll find Dentinogenesis Imperfecta and Amelogenesis Imperfecta. Among their new pages on specific genes, you'll find amelogenin (amelogenesis imperfecta 1, X-linked), dentin sialophosphoprotein (DSPP), enamelin, and matrix metallopeptidase 20 (MMP20 or enamelysin).
Highly recommended.
Another recommended resource (classic rather than current) is Jablonski's Multiple Congenital Anomaly/Mental Retardation. The information provided is core diagnositic features and a chromosome summary.
Less technical and a useful resource for patients and seeking core bibliographies on a topic is the website and database for NORD. Print copies of the book are in Reference [RC 48.8 .N3851]. The website has free content and paid content. Persons currently affiliated with the University of Michigan can get both through MIRLYN. The link below goes only to the free content.
National Organization for Rare Disorders, Inc. (NORD): http://www.rarediseases.org/
NORD usually provides links to quality patient information and public websites on the specific disorders. There are a few excellent overview sites, such as FACES: The National Craniofacial Association, Let's Face It, and World Craniofacial Foundation.
Posted by pfa at January 30, 2006 11:47 AM