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Dental defects may be the physical expression of genetic defects, and so they can often be seen in a variety of syndromes associated with malformations of organs. However, dental defects are often not recognized, identified, nor characterised despite representing a possible diagnostic sign for an undiagnosed condition. This book addresses this gap by providing an understanding of dental genetics and its developmental biology counterpart. With approximately seventy well-illustrated examples, the authors present the clinical oro-facial manifestations accompanying various syndromes, providing

Teeth --- Mouth --- Genetic disorders. --- Abnormalities.

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Developmental disabilities --- Genetic disorders --- Neuropsychology --- Genetic aspects

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Protein Homeostasis Diseases: Mechanisms and Novel Therapies offers an interdisciplinary examination of the fundamental aspects, biochemistry and molecular biology of protein homeostasis disease, including the use of natural and pharmacological small molecules to treat common and rare protein homeostasis disorders. Contributions from international experts discuss the biochemical and genetic components of protein homeostasis disorders, the mechanisms by which genetic variants may cause loss-of-function and gain-of-toxic-function, and how natural ligands can restore protein function and homeostasis in genetic diseases. Applied chapters provide guidance on employing high throughput sequencing and screening methodologies to develop pharmacological chaperones and repurpose approved drugs to treat protein homeostasis disorders.

Proteins --- Homeostasis. --- Genetic disorders --- Metabolism. --- Treatment.

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Muscular dystrophy --- Muscular dystrophies --- Dystrophy --- Genetic disorders --- Neuromuscular diseases

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This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder.

Keywords

Endocrine glands --- Diseases. --- Clinical endocrinology --- Endocrine diseases --- Hormonal disorders --- Genetic disorders. --- Steroids.