Open AccessBlue Sclera With and Without Corneal Fragility (Brittle Cornea Syndrome) in a Consanguineous Family Harboring ZNF469 Mutation (p.E1392X)
Author(s) -
Arif O. Khan,
Mohammed A. Aldahmesh,
Jawahir N. Mohamed,
Fowzan S. Alkuraya
Publication year - 2010
Publication title -
archives of ophthalmology
Language(s) - English
Resource type - Journals
eISSN - 1538-3601
pISSN - 0003-9950
DOI - 10.1001/archophthalmol.2010.238
Subject(s) - sclera , cornea , ophthalmology , medicine , mutation , corneal diseases , consanguinity , optometry , genetics , biology , pediatrics , gene