Holoprosencephaly: clinical, anatomic, and molecular dimensions.
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.
Cohen
M Michael
MM
Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada. michael.cohen@dal.ca
D004815:Epidermal Growth Factor / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005145:Face / Q000473:pathology; D051858:Forkhead Transcription Factors / Q000235:genetics; D058851:GPI-Linked Proteins; D053823:Hedgehog Proteins / Q000235:genetics; D016142:Holoprosencephaly / Q000145:classification / Q000150:complications* / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D051741:Kruppel-Like Transcription Factors / Q000235:genetics; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D009436:Neural Tube Defects / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D000075746:Zinc Finger Protein Gli2; D000097607:Homeobox Protein SIX3
D004815:Epidermal Growth Factor; D005136:Eye Proteins; D051858:Forkhead Transcription Factors; D058851:GPI-Linked Proteins; D053823:Hedgehog Proteins; D018398:Homeodomain Proteins; D036341:Intercellular Signaling Peptides and Proteins; D051741:Kruppel-Like Transcription Factors; D008562:Membrane Glycoproteins; D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D044925:Oxidoreductases Acting on CH-CH Group Donors; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface; D012097:Repressor Proteins; D014157:Transcription Factors; D000075746:Zinc Finger Protein Gli2; D000097607:Homeobox Protein SIX3; C510350:FOXH1 protein, human; C082593:GLI2 protein, human; C000606236:PTCH1 protein, human; C509239:SHH protein, human; C070636:TDGF1 protein, human; C097504:TGIF1 protein, human; C491812:ZIC2 protein, human; C019995:7-dehydrocholesterol reductase