| Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission. | |
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MedLine Citation:
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PMID: 3605217 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a family in which a mother and her 2 offspring presented with bilateral radial defects and absent thumbs. In addition, Duane anomaly was present in both offspring, one of whom also had anal stenosis. Clinical investigation showed no skeletal, cardiac, or urogenital abnormalities. Autosomal dominant transmission of radial defects is suggested, with Duane anomaly and anal stenosis representing manifestations of the same gene. |
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Authors:
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K D MacDermot; R M Winter |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 27 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1987 Jun |
Date Detail:
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Created Date: 1987-07-28 Completed Date: 1987-07-28 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 313-9 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Anal Canal / abnormalities* Eye Movements* Female Genes, Dominant Humans Middle Aged Pedigree Radius / abnormalities* Thumb / abnormalities* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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