Elements of Medical Genetics

This is a textbook of medical genetics covering both the scientific basis and clinical practice of this area.

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This is an excellent textbook of medical genetics covering both the scientific basis and clinical practice of this fast moving area. Over the last two editions, this well established book has changed radically fin appearance and content, being transformed from a relatively dull small-format single colour book into a large format, two colour developed text book. For this new edition the page design has been retained but the content has been thoroughly updated. Features: * New to this edition: * Single Gene Disorder chapter includes Huntingdon's Disease, Myotonic Dystrophy, Marfan's Syndrome. Hereditary Motor Sensory Neuropathy and Spinal Muscular Atrophy. * Cancer Genetics chapter enlarged to include BRCA1, BRCA2 and mismatched repair genes in familiar cancer. * Update on progress in the Human Genome Project and developments in gene therapy. * Concept of Triplet Repeat/Unstable Mutations has been expanded. * Developmental Genetics chapter will include ret oncopgene, SOX genes, the FGFR genes and craniosynostosis.