Locus heterogeneity and Knobloch syndrome

Am J Med Genet A. 2010 Nov;152A(11):2880-1. doi: 10.1002/ajmg.a.33619.

Authors

Sarah Joyce¹, Louise Tee, Aiysha Abid, Shagufta Khaliq, S Qasim Mehdi, Eamonn R Maher

Affiliation

¹ Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, Institute of Biomedical Research, University of Birmingham College of Medical and Dental Sciences, Birmingham, UK.

PMID: 20979194
DOI: 10.1002/ajmg.a.33619

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosomes, Human, Pair 17 / genetics
DNA Mutational Analysis
Encephalocele / genetics
Family
Female
Genetic Heterogeneity*
Genetic Loci / genetics*
Humans
Male
Pedigree
Polymorphism, Single Nucleotide / genetics
Retinal Degeneration
Retinal Detachment / congenital
Retinal Detachment / genetics

Supplementary concepts

Knobloch syndrome