Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree

Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree

AIM: To explore the clinical feature and genetic etiology of a Chinese Knobloch syndrome family. METHODS: Ocular examinations and magnetic resonance imagings (MRIs) were performed on the family. Whole exome sequencing was conducted on the two patients. Sanger sequencing was utilized to validate the...

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Bibliographic Details
Main Authors: Lu-Si Zhang, Hai-Bo Li, Jun Zeng, Yan Yang, Chun Ding
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2018-06-01
Series:International Journal of Ophthalmology
Subjects:
922
Knobloch syndrome
COL18A1
whole exome sequencing
Online Access:http://www.ijo.cn/en_publish/2018/6/20180604.pdf

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