Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita by Wen‐bin Zheng, Lu‐jiao Li, Di‐chen Zhao, Ou Wang, Yan Jiang, Wei‐bo Xia, Xiao‐ping Xing, Mei Li

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New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies by Meng-Che Tsai, Meng-Che Tsai, Yen-Yin Chou, Chia-Yi Li, Yi-Chieh Wang, Hui-Wen Yu, Chia-Hsiang Chen, Peng-Chieh Chen, Peng-Chieh Chen

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The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study by Mohammad Shboul, Hela Sassi, Houweyda Jilani, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Lamia Ben Jemaa, Marwa Hilmi, Susanna Gerit Kircher, Ali Al Kaissi

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COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita by Nenna R, Turchetti A, Mastrogiorgio G, Midulla F

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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 by Kan Wu, Zhumei Li, Yuhua Zhu, Xiaocheng Wang, Guohui Chen, Zhaohui Hou, Qiujing Zhang

Subjects: “…Spondyloepiphyseal dysplasia congenita…”
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