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

来源：

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY | 2006年 / 76卷 / 09期

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

页码：658 / 673

页数：16

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