Ontology highlight
ABSTRACT:
SUBMITTER: Kauvar EF
PROVIDER: S-EPMC3152819 | biostudies-literature | 2011 Apr
REPOSITORIES: biostudies-literature
Kauvar Emily F EF Hu Ping P Pineda-Alvarez Daniel E DE Solomon Benjamin D BD Dutra Amalia A Pak Evgenia E Blessing Brooke B Proud Virginia V Shanske Alan L AL Stevens Cathy A CA Rosenfeld Jill A JA Shaffer Lisa G LG Roessler Erich E Muenke Maximilian M
Molecular genetics and metabolism 20101221 4
Holoprosencephaly (HPE) is the most common disorder of human forebrain and facial development. Presently understood etiologies include both genetic and environmental factors, acting either alone, or more likely, in combination. The majority of patients without overt chromosomal abnormalities or recognizable associated syndromes have unidentified etiologies. A potential candidate gene, Twisted Gastrulation Homolog 1 (TWSG1), was previously suggested as a contributor to the complex genetics of hum ...[more]