A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.

Mohney, Brian G

A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. [electronic resource] - Ophthalmology Jun 2011 - 1137-44 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1549-4713

10.1016/j.ophtha.2010.10.009 doi


Abnormalities, Multiple--genetics
Adolescent
Adult
Aged
Child
Child, Preschool
Chromosomes, Human, Pair 3
DNA--genetics
DNA Mutational Analysis
Eye Abnormalities--genetics
Female
Follow-Up Studies
Genetic Predisposition to Disease
Humans
Infant
Laminin--genetics
Male
Middle Aged
Mutation, Missense
Myasthenic Syndromes, Congenital
Nephrotic Syndrome
Pedigree
Phenotype
Pupil Disorders--genetics
Retrospective Studies
Young Adult