Holoprosencephaly: Clinical, anatomic, and molecular dimensions

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175 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)658-673
Number of pages16
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Volume76
Issue number9
DOIs
Publication statusPublished - Sept 2006

ASJC Scopus Subject Areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Developmental Biology

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