TY - CHAP M1 - Book, Section TI - Chapter 360. Genetic Disorders of the Skin A1 - Tlougan, Brook E. A1 - Paller, Amy S. A2 - Rudolph, Colin D. A2 - Rudolph, Abraham M. A2 - Lister, George E. A2 - First, Lewis R. A2 - Gershon, Anne A. Y1 - 2011 N1 - T2 - Rudolph's Pediatrics, 22e AB - During the last decade, our understanding of the molecular bases for genetic disorders of the skin has expanded tremendously. Identifying the gene mutations that lead to phenotypic manifestations facilitates prenatal diagnosis using molecular techniques. For some disorders, this information has translated into early trials of gene therapy or the development of new pharmacologic therapy based on manipulation of gene product levels. Several support groups that provide education for patients and physicians are available and are listed for each subgroup of genetic disorders of skin. The National Organization for Rare Disorders (NORD) at http://www.rarediseases.org can also help families for whom there is no specific support group. More information about specific genetic disorders can be found at http://www.ncbi.nih.gov/sites/entrez?db=OMIM and about the availability of genetic testing at http://www.genetests.org. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=7032841 ER -