| Recurrent anencephaly: A case report and examination of the VANGL1 and FOXN1 genes. | |
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MedLine Citation:
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PMID: 23301910 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We report a new and rare case of recurrent anencephaly in a family with no other apparent abnormalities. The karyotypes of the family and all affected subjects were normal. Thorough mutational analyses of VANGL1 of chromosome 1p13.1 and FOXN1 of chromosome 17q11-q12, genes that are associated with phenotypes of the anencephaly spectrum, unfortunately did not disclose any DNA variations in an affected fetus of this family. The etiology of recurrent anencephaly in this family is therefore due to mutations in genes yet to be discovered, perhaps of the planar cell polarity pathway, or to possible environmental gestational factors during development. |
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Authors:
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Consolato Sergi; Jean Gekas; Deepak Kamnasaran |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2013-1-10 |
Journal Detail:
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Title: Fetal and pediatric pathology Volume: - ISSN: 1551-3823 ISO Abbreviation: Fetal Pediatr Pathol Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-1-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101230972 Medline TA: Fetal Pediatr Pathol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Laboratory Medicine and Pathology, University of Alberta , Edmonton , Canada. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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