A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I

Stickler syndrome type I (STL1, MIM 108300) is characterized by ocular, auditory, skeletal and orofacial manifestations. Nonsyndromic ocular STL1 (MIM 609508) characterized by predominantly ocular features is a subgroup of STL1, and it is inherited in an autosomal dominant manner. In this study, a n...

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Detalles Bibliográficos
Autores principales: Liu, Xiuzhen, Dong, Hongliang, Gong, Yuerong, Wang, Lianqing, Zhang, Ruyi, Zheng, Tihua, Zheng, Yuxi, Shen, Shuang, Zheng, Chelsea, Tian, Mingming, Liu, Naiguo, Zhang, Xiaolin, Zheng, Qing Yin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8899160/
https://www.ncbi.nlm.nih.gov/pubmed/35064646
http://dx.doi.org/10.1111/jcmm.17187

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