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Directory Sites
Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.www.geneclinics.org
Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
www.kumc.edu
Information on a rare congenital disease.
www.p-c-d.org
Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
www.xlhnetwork.org
Genetic Disorders: The Links to Diet
Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.
www.ctds.info
The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
www.ygyh.org
Blepharophimosis Ptosis Epicanthus Inversus Syndrome
The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder.
freespace.virgin.net
IMMD Institute of Medical Molecular Diagnostics Ltd.
The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood.
www.immd.de
The Center For Jewish Genetics Disorders
A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources.
www.jewishgeneticscenter.org
Explains a gene defect of mitochondrial DNA which causes several diseases, including maternally inherited diabetes with deafness. Features a newsletter, patient forum and definitions.
www.a3243g.com
Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
www.drgreene.org
What malformation did El Greco paint?
El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?
www.jdawiseman.com
New Scientist: Heroin Addiction Gene Identified and Blocked
Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug.
www.newscientist.com
Aarskog syndrome, the synonyms, a summary and a list of the major features.
www.nlm.nih.gov
Family Village - Aarskog Syndrome
Offers links for support and information concerning this disease.
www.familyvillage.wisc.edu