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Genetic Disorders
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- Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.|
» A3243G - Explains a gene defect of mitochondrial DNA which causes several diseases, including maternally inherited diabetes with deafness. Features a newsletter, patient forum and definitions.
» 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.
» 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.
» Genetic and Rare Conditions - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
» 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.
» Information on Trisomy 13 - Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
» 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.
» Primary Ciliary Dyskinesia - Information on a rare congenital disease.
» 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.
» The UDGD Spot - Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis.
» What malformation did El Greco paint? - El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?
» XLH Network - Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
» Your Genes, Your Health - The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
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Last Updated: 2007-03-24 07:34:36
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