Rosenfeld, Jill A
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. [electronic resource]
- Human genetics Apr 2010
- 421-40 p. digital
Publication Type: Journal Article
ISSN: 1432-1203
Standard No.: 10.1007/s00439-009-0778-7 doi
Subjects--Topical Terms: Chromosomes, Human, Pair 3--genetics Comparative Genomic Hybridization Dandy-Walker Syndrome--complications Eye Proteins--genetics Female Fibroblast Growth Factor 8--genetics Gene Deletion Gene Duplication Glycogen Synthase Kinase 3--genetics Glycogen Synthase Kinase 3 beta Haploinsufficiency Hedgehog Proteins--genetics Holoprosencephaly--classification Homeodomain Proteins--genetics Humans Male Models, Genetic Nerve Tissue Proteins--genetics Oligonucleotide Array Sequence Analysis Phenotype Homeobox Protein SIX3