TY  - GEN
AU  - Mohney,Brian G
AU  - Pulido,Jose S
AU  - Lindor,Noralane M
AU  - Hogan,Marie C
AU  - Consugar,Mark B
AU  - Peters,Justin
AU  - Pankratz,V Shane
AU  - Nasr,Samih H
AU  - Smith,Stephen J
AU  - Gloor,James
AU  - Kubly,Vickie
AU  - Spencer,Dorothy
AU  - Nielson,Rebecca
AU  - Puffenberger,Erik G
AU  - Strauss,Kevin A
AU  - Morton,D Holmes
AU  - Eldahdah,Lama
AU  - Harris,Peter C
TI  - A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome
SN  - 1549-4713
PY  - 2011///0811
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Child
KW  - Child, Preschool
KW  - Chromosomes, Human, Pair 3
KW  - DNA
KW  - DNA Mutational Analysis
KW  - Eye Abnormalities
KW  - Female
KW  - Follow-Up Studies
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Infant
KW  - Laminin
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Myasthenic Syndromes, Congenital
KW  - Nephrotic Syndrome
KW  - Pedigree
KW  - Phenotype
KW  - Pupil Disorders
KW  - Retrospective Studies
KW  - Young Adult
N1  - Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ophtha.2010.10.009
ER  -