Book chapter
The Genetics Contributing to Disorders Involving Congenital Scoliosis
The Genetics and Development of Scoliosis, pp 89-106
13 Jun 2018
Abstract
Congenital scoliosis (CS) is a congenital deformity of the spine, which can present as an isolated malformation, or part of a syndrome with other clinical features such as renal, cardiac, gastrointestinal, and limb malformations, etc. FGF, WNT, Notch, and TGFβ signaling pathway-associated genes have important roles in spine development. In this chapter, we highlight the embryologic basis of CS, including relevant genes associated with CS etiology. We review the genetic approaches used to understand molecular etiologies and pathogenic mechanisms for CS. Genes contributing to CS and associated vertebral malformation syndromes are also summarized.
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Details
- Title
- The Genetics Contributing to Disorders Involving Congenital Scoliosis
- Creators
- Nan Wu - Peking Union Medical College HospitalPhilip Giampietro - Drexel UniversityKazuki Takeda - RIKEN Center for Integrative Medical Sciences
- Publication Details
- The Genetics and Development of Scoliosis, pp 89-106
- Publisher
- Springer International Publishing; Cham
- Resource Type
- Book chapter
- Language
- English
- Academic Unit
- Pediatrics
- Scopus ID
- 2-s2.0-85053714483
- Other Identifier
- 991019173667304721