Limb Malformations

Limb Malformations

Stefan Mundlos • Denise Horn 2014 An Atlas of Genetic Disorders of Limb Development Congenital malformations are relatively common among newborns. If recognized early, many can be treated, and a complete repair can often be achieved. Our knowledge about this diverse field of medicine has greatly increased over the last decades. We now recognize a […]

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Progress in Heritable Soft Connective Tissue Diseases

Progress in Heritable Soft Connective Tissue Diseases-1

Jaroslava Halper Editor 2014 Marfan and Ehlers-Danlos syndromes are the two best known and most studied heritable disorders of soft tissues. The contrast between what was known about clinical presentation and symptomatology, pathology, and mode of inheritance of what we call Marfan syndrome today when it was described fi rst in a case report in 1896 by Antoine Marfan himself [ 1 […]

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Primary Aldosteronism

Primary Aldosteronism-1

Per Hellman Editor 2014 Molecular Genetics, Endocrinology, and Translational Medicine Primary aldosteronism (PA) may be the best treatable risk factor for cardiovascular disease besides to quit smoking. The discovery of the disease is described in Prof. Gordon’s chapter in this book, and the understanding of its prevalence and the epidemiology behind it as well. Thus, PA is common, […]

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Molecular Mechanisms and Physiology of Disease

Molecular mechanisms and physiology of disease-1

Nilanjana Maulik • Tom Karagiannis Editors 2014 Implications for Epigenetics and Health Although coined in the 1940s by Conrad Waddington and now representing an intense field of biomedical research, the precise definition of Epigenetics remains controversial. In its simplest form epigenetics refers to heritable changes that are not due to changes in the underlying DNA sequence. Whereas DNA […]

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