TY  - GEN
AU  - Rosenfeld,Jill A
AU  - Ballif,Blake C
AU  - Martin,Donna M
AU  - Aylsworth,Arthur S
AU  - Bejjani,Bassem A
AU  - Torchia,Beth S
AU  - Shaffer,Lisa G
TI  - Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE
SN  - 1432-1203
PY  - 2011///0506
KW  - Chromosomes, Human, Pair 3
KW  - genetics
KW  - Comparative Genomic Hybridization
KW  - Dandy-Walker Syndrome
KW  - complications
KW  - Eye Proteins
KW  - Female
KW  - Fibroblast Growth Factor 8
KW  - Gene Deletion
KW  - Gene Duplication
KW  - Glycogen Synthase Kinase 3
KW  - Glycogen Synthase Kinase 3 beta
KW  - Haploinsufficiency
KW  - Hedgehog Proteins
KW  - Holoprosencephaly
KW  - classification
KW  - Homeodomain Proteins
KW  - Humans
KW  - Male
KW  - Models, Genetic
KW  - Nerve Tissue Proteins
KW  - Oligonucleotide Array Sequence Analysis
KW  - Phenotype
KW  - Homeobox Protein SIX3
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1007/s00439-009-0778-7
ER  -