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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Päätekijät:	Kan Wu, Zhumei Li, Yuhua Zhu, Xiaocheng Wang, Guohui Chen, Zhaohui Hou, Qiujing Zhang
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	BMC 2021-06-01
Sarja:	BMC Medical Genomics
Aiheet:	Spondyloepiphyseal dysplasia congenita COL2A1 Sensorineural hearing loss Variation Genetics
Linkit:	https://doi.org/10.1186/s12920-021-01020-y
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