Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1

Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1

Abstract Background Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses, and flattened vertebral bodies. COL2A1 has been confirmed as the pathogenic gene. Hearing loss represents an infrequent man...

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Bibliographic Details
Main Authors: Kan Wu, Zhumei Li, Yuhua Zhu, Xiaocheng Wang, Guohui Chen, Zhaohui Hou, Qiujing Zhang
Format: Article
Language:English
Published: BMC 2021-06-01
Series:BMC Medical Genomics
Subjects:
Spondyloepiphyseal dysplasia congenita
COL2A1
Sensorineural hearing loss
Variation
Genetics
Online Access:https://doi.org/10.1186/s12920-021-01020-y

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