Article
Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.
Birth defects research. Part A, Clinical and molecular teratology - 1 Nov 2012
Ribeiro Lucilene A, Roessler Erich, Hu Ping, Pineda-Alvarez Daniel E, Zhou Nan, Jones Marypat, Chandrasekharappa Settara, Richieri-Costa Antonio, Muenke Maximilian
Abstract excerpt
BACKGROUND: Holoprosencephaly is the most frequent congenital malformation of the forebrain in humans. It is anatomically classified by the relative degree of abnormal formation and separation of the developing central nervous system. Mutations of ZIC2 are the second most common heterozygous variations detected in holoprosencephaly (HPE) patients. Mutations in most known HPE genes typically result in variable...
Topics
- Adult
- Alleles
- Brazil
- Case-Control Studies
- Child
- Child, Preschool
- Female
- Gene Frequency
- Genetic Association Studies
- Genotype