Open AccessGermline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease
Author(s) -
Wenmin Sun,
Xueshan Xiao,
Shiqiang Li,
Xiaoyun Jia,
Panfeng Wang,
Qingjiong Zhang
Publication year - 2019
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.18-25142
Subject(s) - proband , germline , genetics , germline mutation , exome sequencing , phenotype , biology , exome , mutation , genotype , compound heterozygosity , disease , gene , medicine , pathology
Germline and somatic mutations in CTNNB1 have been found in different types of human diseases. This follow-up study aimed to identify causative germline mutations in CTNNB1 and their associated ocular phenotypes through a comparative analysis of whole-exome sequencing data.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom