Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Knobloch Syndrome[original query] |
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Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree. International journal of ophthalmology 2018 7 11 (6): 918-922. Zhang Lu-Si, Li Hai-Bo, Zeng Jun, Yang Yan, Ding Ch |
An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline. Frontiers in cell and developmental biology 2021 7 9 644947. Wang Panfeng, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Long Yuxi, Liu Mengchu, Li Yongyu, Li Jun, Xu Yan, Zhang Qingjio |
Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population. Genes 2021 10 12 (10): . Li Songshan, Wang You, Sun Limei, Yan Wenjia, Huang Li, Zhang Zhaotian, Zhang Ting, Ding Xiaoy |
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- Page last updated:May 20, 2024
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