Holoprosencephaly: A paradigm for the complex genetics of brain development

被引：127

作者：

Roessler, E

Muenke, M

机构：

[1] Natl Human Genome Res Inst, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[2] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA

[3] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Dept Genet, Philadelphia, PA 19104 USA

[4] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Dept Neurol, Philadelphia, PA 19104 USA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1998年 / 21卷 / 05期

关键词：

D O I：

10.1023/A:1005406719292

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Holoprosencephaly (HPE) is the most common major developmental defect of the forebrain in humans. Clinical expression is variable, ranging from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial HPE. Significant aetiological heterogeneity exists in HPE and includes both genetic and environmental causes. Recently, defects in the cell signalling pathway involving the Sonic Hedgehog (SHH) gene, as well as defects in the cholesterol biosynthesis, have been shown to cause HPE in humans. These discoveries and current genetic approaches serve as a paradigm for studying normal and abnormal brain morphogenesis.

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页码：481 / 497

页数：17

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