Holoprosencephaly: Clinical, anatomic, and molecular dimensions
Top Cited Papers
- 25 September 2006
- journal article
- review article
- Published by Wiley in Birth Defects Research Part A: Clinical and Molecular Teratology
- Vol. 76 (9) , 658-673
- https://doi.org/10.1002/bdra.20295
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. Birth Defects Research (Part A) 76:658–673, 2006.Keywords
This publication has 151 references indexed in Scilit:
- Gli/Zic factors pattern the neural plate by defining domains of cell differentiationNature, 1998
- Mutations in the human Sonic Hedgehog gene cause holoprosencephalyNature Genetics, 1996
- Median cleft lip without holoprosencephaly. Case reportInternational Journal of Oral & Maxillofacial Surgery, 1993
- Retinoic Acid EmbryopathyNew England Journal of Medicine, 1985
- Single central incisor in familial holoprosencephalyThe Journal of Pediatrics, 1984
- Holoprosencephaly in infants of diabetic mothersThe Journal of Pediatrics, 1983
- Can maternal alcohol ingestion cause neural tube defects?The Journal of Pediatrics, 1982
- Prevalence of growth hormone deficiency in children with cleft lip or palateThe Journal of Pediatrics, 1978
- Hypothalamic-pituitary dysfunction in siblings of patients with holoprosencephalyThe Journal of Pediatrics, 1973
- Familial holoprosencephaly with endocrine dysgenesisThe Journal of Pediatrics, 1968