A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. [electronic resource]
Producer: 20110811Description: 1137-44 p. digitalISSN:- 1549-4713
- 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
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Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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