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

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 manifestati...

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Detalles Bibliográficos
Autores principales: Wu, Kan, Li, Zhumei, Zhu, Yuhua, Wang, Xiaocheng, Chen, Guohui, Hou, Zhaohui, Zhang, Qiujing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8240210/
https://www.ncbi.nlm.nih.gov/pubmed/34182999
http://dx.doi.org/10.1186/s12920-021-01020-y

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