Ontology highlight
ABSTRACT:
SUBMITTER: Roessler E
PROVIDER: S-EPMC2674582 | biostudies-literature | 2009 Apr
REPOSITORIES: biostudies-literature
Human mutation 20090401 4
Mutations of the ZIC2 transcription factor gene are among the most common heterozygous variations detected in holoprosencephaly (HPE) patients, a patient group who lack critical midline forebrain specification due to defective embryonic signaling during development. Recent studies indicate that complete deficiency of the related murine Zic2 transcription factor can also be a contributing factor to variable midline deficiencies, presenting during mid-gastrulation, that could explain similar foreb ...[more]