Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly.
Merritt
J L
JL
Department of Pediatrics, Children's Hospital & Regional Medical Center, University of Washington School of Medicine, Seattle, Washington, USA.
Lindor
N M
NM
D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005190:Family; D005260:Female; D020440:Gene Duplication; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000503:physiopathology*; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D018980:Williams Syndrome / Q000235:genetics* / Q000503:physiopathology*