Review
doi: 10.1002/bdra.20295.
Holoprosencephaly: clinical, anatomic, and molecular dimensions
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- PMID: 17001700
- DOI: 10.1002/bdra.20295
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Review
Holoprosencephaly: clinical, anatomic, and molecular dimensions
Birth Defects Res A Clin Mol Teratol.
2006 Sep.
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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