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Titlebook: Limb Malformations; An Atlas of Genetic Stefan Mundlos,Denise Horn Book Dec 2014Latest edition Springer-Verlag Berlin Heidelberg 2014 Cong

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发表于 2025-3-21 18:41:37 | 显示全部楼层 |阅读模式
书目名称Limb Malformations
副标题An Atlas of Genetic
编辑Stefan Mundlos,Denise Horn
视频video
概述Practical Guide to the diagnosis of Limb Malformations.Abundantly illustrated with many clinical photos and radiographs.Comprehensive and concise
图书封面Titlebook: Limb Malformations; An Atlas of Genetic  Stefan Mundlos,Denise Horn Book Dec 2014Latest edition Springer-Verlag Berlin Heidelberg 2014 Cong
描述.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..
出版日期Book Dec 2014Latest edition
关键词Congenital Malformations; Deformity; Heritable diseases of the limbs; Limb development
版次1
doihttps://doi.org/10.1007/978-3-540-95928-1
copyrightSpringer-Verlag Berlin Heidelberg 2014
The information of publication is updating

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发表于 2025-3-21 23:09:38 | 显示全部楼层
ncise.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 an
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Acrocallosal Syndromeostrils; high arched palate; and open mouth with thick lips. Brain malformations are often cystic and may include cerebral atrophy, hypothalamic dysfunction, hypoplasia of the pons, abnormalities of the cerebellum, partial micropolygyria, partial pachygyria, and heterotopia.
发表于 2025-3-22 09:08:06 | 显示全部楼层
Postaxial Polydactylyashion with high penetrance. In type B, also known as pedunculated postminimi, a rudimentary, poorly developed extra finger is present. In this type, variable expressivity and reduced penetrance are common, suggesting more complex types of inheritance. However, both types have been observed in one family.
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Short Rib-Polydactyly Syndromesoriented ribs; very short tubular bones of the extremities with a pointed or ragged appearance (types I and III) or rounded ends (types II and IV); incomplete ossification of tubular bones; and small iliac bones with flattened acetabular roofs.
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Development of the Limbs lateral plate mesoderm (LPM) contains the progenitors for all populations of limb tissues (cartilage, tendon, connective tissue, and so on) with the exception of muscle. Myogenic progenitors originate from the somites and actively migrate into the nascent limb buds. As the limb bud grows distally,
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