Limb Malformations : An Atlas of Genetic Disorders of Limb Development
Mundlos, Stefan
Limb Malformations : An Atlas of Genetic Disorders of Limb Development by Stefan Mundlos, Denise Horn. - Berlin, Heidelberg Springer 2014 - 1 recurso en línea (XVI, 267 p.) 600 ilustraciones, 500 ilustraciones en color
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 g2sSynonymsg3s, g2sMajor clinical findingsg3s, g2sGenetic transmissiong3s, g2sDifferential diagnosisg3s, g2sMolecular Pathologyg3s, 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
9783540959281
10.1007/978-3-540-95928-1 doi
Malformaciones congénitas
Genética humana
Radiología
RG627 / .M86 2014 EB
611.01816 599.935
Limb Malformations : An Atlas of Genetic Disorders of Limb Development by Stefan Mundlos, Denise Horn. - Berlin, Heidelberg Springer 2014 - 1 recurso en línea (XVI, 267 p.) 600 ilustraciones, 500 ilustraciones en color
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 g2sSynonymsg3s, g2sMajor clinical findingsg3s, g2sGenetic transmissiong3s, g2sDifferential diagnosisg3s, g2sMolecular Pathologyg3s, 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
9783540959281
10.1007/978-3-540-95928-1 doi
Malformaciones congénitas
Genética humana
Radiología
RG627 / .M86 2014 EB
611.01816 599.935