A large number of inherited disorders-the socalled inborn errors of metabolism-in which the characteristic metabolic and clinical abnormalities can be attributed to specific genetically determined deficiencies of particular enzymes, have now been identified: and new examples are currently appearing in the literature at a remarkable rate. Furthermore studies in vitro of the enzyme defect, as it ...

Malignant melanoma (MM) represents one of the most aggressive neoplasms and its frequency is increasing rapidly. Increased melanoma risk among relatives of MM patients and familial aggregations of this malignancy point at genetic predisposition as an important factor of MM pathogenesis. The genetic basis of MM is complex and appears to involve multiple genes. CDKN2A is regarded as the major MM ...

introduction: physicians have to visit, diagnose and refer patients with genetic disorders, so they need to be familiar with the basics and indications of genetic tests. in other words, they should have effective theoretical and practical knowledge about medical genetics before they do their job. medical genetics courses at medical universities of iran are generally presented as a theoretical s...

the hyperimmunoglobulin e syndromes (hiess) are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. hies are characterized by the classic triad of high serum levels of immunoglobulin e (ige), recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. most cases of hies are s...

Joël Vos1, Encarna Gómez-García, Jan C. Oosterwijk, Fred H. Menko, Reinoud D. Stoel, Christi J. van Asperen1, Anna M. Jansen1, Anne M. Stiggelbout, Aad Tibben. 1 Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. 2 Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands. 3...