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Limb Malformations electronic resource An Atlas of Genetic Disorders of Limb Development / by Stefan Mundlos, Denise Horn.

By: Mundlos, Stefan [author.]Contributor(s): Horn, Denise [author.] | SpringerLink (Online service)Material type: TextTextPublication details: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2014Description: XVI, 267 p. 600 illus., 500 illus. in color. online resourceContent type: text Media type: computer Carrier type: online resourceISBN: 9783540959281Subject(s): medicine | Human genetics | Radiology, Medical | Orthopedic surgery | Pediatrics | Biomedicine | Human Genetics | Surgical Orthopedics | Pediatrics | Imaging / RadiologyDDC classification: 611.01816 | 599.935 LOC classification: RB155-155.8QH431Online resources: Click here to access online In: Springer eBooksSummary: One aim of this atlas is to present a comprehensive overview of limb malformation phenotypes in order to provide the clinician with a tool that facilitates the diagnostic process. With the enormous advances in molecular and developmental biology, the genetic basis of many limb malformations and their relationship to each other has been elucidated. Thus, a further aim of this atlas is to provide the reader with a basic understanding of the molecular pathology of these conditions. The book is extensively illustrated with clinical photos and radiographs of conditions or groups of related conditions. In addition, a concise description of the conditions is provided featuring structured information on “Synonyms”, “Major clinical findings”, “Genetic transmission”, “Differential diagnosis”, “Molecular Pathology”, and references to Mendelian Inheritance in Man (OMIM). The book is designed for medical geneticists, radiologists, pediatricians, hand surgeons, orthopedic surgeons, as well as medical personnel and other physicians involved in the evaluation and treatment of patients with abnormal limbs.
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One aim of this atlas is to present a comprehensive overview of limb malformation phenotypes in order to provide the clinician with a tool that facilitates the diagnostic process. With the enormous advances in molecular and developmental biology, the genetic basis of many limb malformations and their relationship to each other has been elucidated. Thus, a further aim of this atlas is to provide the reader with a basic understanding of the molecular pathology of these conditions. The book is extensively illustrated with clinical photos and radiographs of conditions or groups of related conditions. In addition, a concise description of the conditions is provided featuring structured information on “Synonyms”, “Major clinical findings”, “Genetic transmission”, “Differential diagnosis”, “Molecular Pathology”, and references to Mendelian Inheritance in Man (OMIM). The book is designed for medical geneticists, radiologists, pediatricians, hand surgeons, orthopedic surgeons, as well as medical personnel and other physicians involved in the evaluation and treatment of patients with abnormal limbs.

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