Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree - Zhang, Lu-Si; Li, Hai-Bo; Zeng, Jun; Yang, Yan; Ding, Chun (International journal of ophthalmology, 2018)
Keywords: Basic Research; COL18A1; Knobloch syndrome; whole exome sequencing; COL18A1; Knobloch syndrome; whole exome sequencing