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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Dettagli Bibliografici
Pubblicato in:BMC Med Genomics
Autori principali: Wu, Kan, Li, Zhumei, Zhu, Yuhua, Wang, Xiaocheng, Chen, Guohui, Hou, Zhaohui, Zhang, Qiujing
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2021
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8240210/
https://ncbi.nlm.nih.gov/pubmed/34182999
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-01020-y
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