Article
Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated.
Clinical genetics - 1 Jun 2012
Chabchoub E, Willekens D, Vermeesch J R, Fryns J-P
Abstract excerpt
Holoprosencephaly (HPE), the most common malformation of the human brain results from abnormal cleavage of the forebrain during the early embryonic developmental stages. The spectrum of malformations in HPE is wide, ranging from the classical cyclopia/proboscis to fairly asymptomatic forms [i.e. a single maxillary central incisor (SMCI)]. HPE may be caused by environmental or genetic factors. ZIC2 (13q32) was the...
Topics
- Adolescent
- Chromosome Deletion
- Comparative Genomic Hybridization
- DNA-Binding Proteins
- Genetic Heterogeneity
- Holoprosencephaly
- Humans
- Male
- Mutation
- Neural Tube Defects
- Nuclear Proteins