Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

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

1432-1203

10.1007/s00439-009-0778-7 doi


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