Ophthalmological features associated with COL4A1 mutations.

Coupry, Isabelle

Ophthalmological features associated with COL4A1 mutations. [electronic resource] - Archives of ophthalmology (Chicago, Ill. : 1960) Apr 2010 - 483-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1538-3601

10.1001/archophthalmol.2010.42 doi


Adult
Anterior Eye Segment--abnormalities
Cerebral Ventricles--pathology
Child
Collagen Type IV--genetics
Eye Abnormalities--diagnosis
Female
Humans
Leukoencephalopathies--diagnosis
Magnetic Resonance Imaging
Male
Middle Aged
Mutation, Missense
Pedigree
Phenotype