| DeSanctis-Cacchione syndrome. A case report with autopsy findings. | |
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MedLine Citation:
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PMID: 931396 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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One of the first patients studied by Cleaver on the DNA repair defect to ultraviolet light damage in xeroderma pigmentosum has been subjected to autopsy examination. This patient had the DeSanctis-Cacchione syndrome (microcephaly, dwarfism, mental deficiency, and choreoathetosis). Her autopsy findings were similar to those of the other three patients with this syndrome, emphasizing olivopontocerebellar atrophy, who underwent autopsy. The patient apparently could not tolerate psoralens because of increased incidence of carcinoma formation. |
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Authors:
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W B Reed; G I Sugarman; R A Mathis |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Archives of dermatology Volume: 113 ISSN: 0003-987X ISO Abbreviation: Arch Dermatol Publication Date: 1977 Nov |
Date Detail:
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Created Date: 1978-01-27 Completed Date: 1978-01-27 Revised Date: 2008-03-17 |
Medline Journal Info:
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Nlm Unique ID: 0372433 Medline TA: Arch Dermatol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1561-3 Citation Subset: AIM; IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Autopsy Brain / abnormalities Child, Preschool DNA Repair Humans Mental Retardation / complications Syndrome Xeroderma Pigmentosum / genetics, pathology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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