1. Academic Validation
  2. Holoprosencephaly: clinical, anatomic, and molecular dimensions

Holoprosencephaly: clinical, anatomic, and molecular dimensions

  • Birth Defects Res A Clin Mol Teratol. 2006 Sep;76(9):658-73. doi: 10.1002/bdra.20295.
M Michael Cohen Jr 1
Affiliations

Affiliation

  • 1 Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada. [email protected]
Abstract

Holoprosencephaly is addressed under the following headings: alobar, semilobar, and lobar holoprosencephaly; arrhinencephaly; agenesis of the corpus callosum; pituitary abnormalities; hindbrain abnormalities; syntelencephaly; aprosencephaly/atelencephaly; neural tube defects; facial anomalies; median cleft lip; minor facial anomalies; single maxillary central incisor; holoprosencephaly-like phenotype; epidemiology; genetic causes of holoprosencephaly; teratogenic causes of holoprosencephaly; SHH mutations; ZIC2 mutations; SIX3 mutations; TGIF mutations; PTCH mutations; GLI2 mutations; FAST1 mutations; TDGF1 mutations; and DHCR7 mutations.

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