The Mutational Landscape of <i>PTK7</i> in Congenital Scoliosis and Adolescent Idiopathic Scoliosis

The Mutational Landscape of <i>PTK7</i> in Congenital Scoliosis and Adolescent Idiopathic Scoliosis

Depletion of <i>ptk7</i> is associated with both congenital scoliosis (CS) and adolescent idiopathic scoliosis (AIS) in zebrafish models. However, only one human variant of <i>PTK7</i> has been reported previously in a patient with AIS. In this study, we systemically investig...

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Autores principales: Zhe Su, Yang Yang, Shengru Wang, Sen Zhao, Hengqiang Zhao, Xiaoxin Li, Yuchen Niu, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) Study Group, Guixing Qiu, Zhihong Wu, Nan Wu, Terry Jianguo Zhang
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
protein tyrosine kinase 7 (<i>PTK7</i>)
congenital scoliosis
adolescent idiopathic scoliosis
whole exome sequencing
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/09d891cf3fac4b77a9a53608bbd62e87
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https://doaj.org/article/09d891cf3fac4b77a9a53608bbd62e87

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