Holoprosencephaly: Clinical, anatomic, and molecular dimensions

被引:151
作者
Cohen, M. Michael, Jr. [1 ]
机构
[1] Dalhousie Univ, Dept Pediat, Halifax, NS B3H 1W2, Canada
关键词
CNS anomalies; forebrain anomalies; arrhinencephaly; agenesis of the corpus callosum; pituitary abnormalities; hindbrain abnormalities; syntelencephaly; aprosencephaly/atelencephaly; neural tube defects; facial anomalies; median cleft lip; minor anomalies; single maxillary central incisor; holoprosencephaly-like phenotype; epidemiology; genetic causes; teratogenic causes; molecular biology; SHH; ZIC2; SIX3; TGIF; PTCH; GLI2; FAST1; TDGF1; DHCR7;
D O I
10.1002/bdra.20295
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
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.
引用
收藏
页码:658 / 673
页数:16
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