Emery and Rimoin's Essential Medical Genetics

History of Medical Genetics; Medicine in a Genetic Context; Nature and Frequency of Genetic Disease; Genomics and Proteomics; Genome Structure and Gene Expression; Epigenetics; Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences; Mendelian Inheritance Analysis of Genetic Linkage; Chromosomal Basis of Inheritance; Mitochondrial Genes in Degenerative Diseases, Cancer and Aging; Multifactoral Inheritance and Complex Traits; Population Genetics; Pathogenetics of Disease; Genetic Epidemiology; Human Developmental Genetics; Twins and Twinning; The Molecular Biology of Cancer; The Biologic Basis of Aging: Implications for Medical Genetics; Pharmacogenetics and Pharmacogenomics; Bioinformatics; Genetic Risk Assessment for Common Disease; Genetic Counseling and Clinical Risk Assessment; Cytogenetic Analysis; Diagnostic Molecular Genetics; Heterozygote Testing and Carrier Screening; Prenatal Screening for Neural Tube Defects and Aneuploidy Techniques for Prenatal Diagnosis; Neonatal Screening; Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease; Gene Therapy; Ethical and Social Issues in Clinical Genetics; Legal Issues in Genetics in Medicine; The Genetic Basis of Female Infertility; Male Infertility; Fetal Loss; Genetic Disorders of Prematurity; A Clinical Approach to the Dysmorphic Child; Clinical Teratology; Abnormal Mental Development; Abnormal Body Size and Proportion Susceptibility and Response to Infection; Transplantation Genetics; Down Syndrome and other Autosomal Trisomies; Sex Chromosome Abnormalities; Deletions and Other Structural Abnormalities of the Autosomes; Congenital Heart Disease; Cardiomyopathies; Pulmonary Arterial Hypertension; Hereditary Hemorrhagic Telangiectasia; Cutaneous Hamartoneoplastic Disorders; Disorders of the Venous System; Capillary Malformation / Arteriovenous Malformation; Hereditary Disorders or the Lymphatic System; Familial Dysrhythmias and Conduction Disorders; Molecular Basis of Human Hypertension; Preclampsia; Common Genetic Determinants of Coagulation and Fibronolysis; Genetics of Atherosclerotic Cardiovascular Disease; Cystic Fibrosis; Asthma; Hereditary Pulmonary Emphysema; Interstitial and Restrictive Pulmonary Disorders; Congenital Anomalies of the Kidney and Urinary Tract (CAKUT); Cystic Diseases of the Kidney; Nephrotic Disorders; Renal Tubular Disorders; Cancer of the Kidney and Urogenital Tract; Gastrointestinal Tract and Hepatobiliary Duct System; In?ammatory Bowel Disease; Bile Pigment Metabolism and its Disorders; Cancer of the Colon and Gastrointestinal Tract; Hemoglobinopathies and Thalassemias; Other Hereditary Red Blood Cell Disorders; Hemophilias and Other Disorders of Hemostasis; Rhesus and Other Fetomaternal Incompatibilities; Leukemias, Lymphomas and Other Related Disorders; Autoimmunity: Genetics and Immunological Mechanisms; Systemic Lupus Erythematosus; Rheumatoid Disease and Other In?ammatory Arthropathies; Amyloidosis and Other Protein Deposition Diseases; Immunode?ciency Disorders; Complement Defects; Disorders of Leukocyte Function; Genetic Disorders of the Pituitary Gland; Thyroid Disorders; Parathyroid Disorders; Diabetes Mellitus; Genetic Disorders of the Adrenal Gland; Disorders of the Gonads, Genital Tract and Genitalia; Cancer of the Breast and Female Reproductive Tract; Disorders of the Body Mass; Genetic Lipodystrophies; Amino Acid Metabolism; Disorders of Carbohydrate Metabolism; Congenital disorders of protein glycosylation; Purine and Pyrimidine Metabolism; Lipoprotein and Lipid Metabolism; Organic Acidemias and Disorders of Fatty Acid Oxidation; Vitamin D Metabolism or ActionInherited Porphyrias; Copper Metabolism; Iron Metabolism and Related Disorders; Mucopolysaccharidoses; Disorders of DNA Repair and Metabolism; Oligosaccharidoses and Allied Disorders; Gangliosidoses and Related Lipid Storage Diseases; Peroxisomal Disorders; Genetics of Personality; Fragile X Syndrome and Other Causes of X-linked Mental Handicap; Dyslexia and Other Speci?c Learning Disorders; Attention De?cit Hyperactivity Disorder and Other Behavioral Disorders; Autism & Autism Spectrum Alzheimer Disease and Other Dementias; Shizophrenia and Affective Disorders; Addictive Disorders; Neural Tube Defects Genetic Disorders of Cerebral Cortical Development; The Epilepsies; Basal Ganglia Disorders; The Hereditary Ataxias; Sleep Disorders; Hereditary Spastic Paraplegia; Autonomic and Sensory Disorders; The Phakomatoses; Multiple Sclerosis and Other Demyelinating Disorders; Cerebrovascular Disorders; Primary Tumors of the Nervous System; The muscular dystrophies; Hereditary Motor and Sensory Neuropathies Congenital (Structural) Myopathies; Spinal Muscular Atrophies Nondystrophic Myotonias and Periodic Paralyses; Myotonic Dystrophy; Hereditary and Autoimmune Myasthenias; Motor Neurone Disease; Color Vision Defects; Optic Atrophy and Congenital Blindness; Glaucoma; Defects of the Cornea; Anomalies of the Lens; Hereditary Retinal and Choroidal Degenerations; Strabismus; Retinoblastoma; Disorders of the Hair; Hereditary hearing impairment; Clefting/Craniofacial Syndromes/DentalCraniosynostosis; Abnormalities of Pigmentation; Ichthyosiform Dermatoses; Epidermolysis Bullosa; Ectodermal Dysplasias; Psoriasis and Related Disorders; Skin Cancer; Marfan Syndrome and Other Disorders of Fibrillin; Ehlers-Danlos Syndrome; Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa, Pseudoxanthoma Elasticum and Related Disorders; Osteogenesis Imperfecta (and other disorders of bone matrix); Disorders of Bone Density, Volume and Mineralization; Chondrodysplasias; Abnormalities of Bone Structure; The Dysostoses; Arthrogryposes (Multiple Congenital Contractures); Common Skeletal Deformities; Hereditary Nonin?ammatory Arthropathies; Pathways-Cohesinopathies; Ciliopathies

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• Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics
• Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing
• Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com