Abstract：
:PPAX6 is an important transcription factor which plays an essential role in brain morphogenesis and eye development. It is related to migration of neuroblasts to the cerebral cortex and deep telencephalic nuclei, and the specification of cellular and regional identity. Disturbances of brain development in two sib fetuses whose parents were aniridic (both sporadic cases) are reported. Molecular analysis in both parents has shown different mutations in PAX6 gene and a compound heterozygosity for two PAX6 mutations in both fetuses. Neuropathologically both cases showed severe brain malformations with increased germinal proliferation, gross disturbances of migration and organization of the CNS.
journal_name
Folia Neuropatholjournal_title
Folia neuropathologicaauthors
Schmidt-Sidor B,Szymańska K,Williamson K,van Heyningen V,Roszkowski T,Wierzba-Bobrowicz T,Zaremba Jsubject
Has Abstractpub_date
2009-01-01 00:00:00pages
372-82issue
4eissn
1641-4640issn
1509-572Xpii
13840journal_volume
47pub_type
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journal_title：Folia neuropathologica
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journal_title：Folia neuropathologica
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journal_title：Folia neuropathologica
pub_type： 杂志文章,评审
doi：
更新日期：2004-01-01 00:00:00
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journal_title：Folia neuropathologica
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更新日期：2004-01-01 00:00:00
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journal_title：Folia neuropathologica
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doi：
更新日期：1999-01-01 00:00:00
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journal_title：Folia neuropathologica
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journal_title：Folia neuropathologica
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更新日期：2005-01-01 00:00:00
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journal_title：Folia neuropathologica
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doi：
更新日期：1994-01-01 00:00:00
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journal_title：Folia neuropathologica
pub_type： 杂志文章,评审
doi：
更新日期：2009-01-01 00:00:00
