| Craniofrontonasal dysostosis: variable expression in a three-generation family. | |
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MedLine Citation:
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PMID: 2289316 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A family with craniofrontonasal dysostosis (craniofrontonasal dysplasia) is described. There were three severely affected females, two of them daughters of apparently healthy parents. Examination of the male relatives revealed orbital hypertelorism and other minor anomalies in two of them, including the father of the two affected daughters. This family emphasizes the wide variation in the phenotype of craniofrontonasal dysostosis and suggests that male relatives with minor manifestations of the syndrome may be at high risk of having severely affected daughters. The expression of the gene may be modified by the sex. |
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Authors:
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J Kere; A Ritvanen; E Marttinen; I Kaitila |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 38 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1990 Dec |
Date Detail:
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Created Date: 1991-04-04 Completed Date: 1991-04-04 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
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Languages: eng Pagination: 441-6 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, University of Helsinki, Finland. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Child Child, Preschool Craniofacial Dysostosis / genetics* Craniosynostoses / genetics* Female Gene Expression Regulation / physiology* Genetic Variation / genetics* Heterozygote Detection Humans Male Pedigree Phenotype* |
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