Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis

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Tác giả: Philip Giampietro, Nancy Hadley-Miller, Cathy L Raggio

Ngôn ngữ: eng

ISBN-13: 978-3036559759

ISBN-13: 978-3036559766

ISBN: books978-3-0365-5976-6

Ký hiệu phân loại:

Thông tin xuất bản: Basel MDPI - Multidisciplinary Digital Publishing Institute 2022

Mô tả vật lý: 1 electronic resource (172 p.)

Bộ sưu tập: Tài liệu truy cập mở

ID: 377504

In this Special Issue of Genes entitled "Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis", evidence is presented that suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar overlapping, but also distinct, etiopathogenic mechanisms, including connective tissue and neuromuscular mechanisms. Congenital scoliosis (CS) is defined by the presence of an abnormal spinal curvature, due to an underlying vertebral bony malformation (VM). Idiopathic scoliosis (IS) is defined by the presence of an abnormal structural spinal curvature of ≥10 degrees in the sagittal plane, in the absence of an underlying VM. Arthrogryposis is defined by the presence of congenital contractures in two or more joints of the appendicular skeleton. All three conditions have complex genetic causes. This Special Issue highlights the complex nature of these conditions and current concepts in our approach to better understand their genetics.
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