Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly

Am J Med Genet A. 2008 Apr 15;146A(8):1055-8. doi: 10.1002/ajmg.a.32235.

Authors

J L Merritt¹, N M Lindor

Affiliation

¹ Department of Pediatrics, Children's Hospital & Regional Medical Center, University of Washington School of Medicine, Seattle, Washington, USA.

PMID: 18266245
DOI: 10.1002/ajmg.a.32235

No abstract available

MeSH terms

Chromosome Aberrations*
Chromosomes, Human, Pair 7 / genetics*
Family
Female
Gene Duplication
Glaucoma / congenital*
Glaucoma / genetics
Glaucoma / physiopathology
Humans
Infant
Male
Microcephaly / genetics
Microcephaly / physiopathology*
Nucleic Acid Hybridization
Oligonucleotide Array Sequence Analysis
Williams Syndrome / genetics*
Williams Syndrome / physiopathology*