| Congenital infection-like syndrome with intracranial calcification. | |
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MedLine Citation:
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PMID: 20926212 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Congenital infection-like syndrome includes multiple disorders. Although novel syndromes have recently been described and their genetic defects identified, many cases remain unclassified. Here we report a patient with neuroradiologic findings of intracranial calcification and cerebellar hypoplasia, and clinical features of growth retardation, progressive pancytopenia, interstitial pneumonia, and immune abnormality. Our patient had a phenotypic overlap with Aicardi-Goutières syndrome and Hoyeraal-Hreidarsson syndrome, despite the absence of mutation in their responsible genes. |
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Authors:
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Yoko Mizuno; Kan Takahashi; Takashi Igarashi; Makiko Saito; Masashi Mizuguchi |
Publication Detail:
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Type: Journal Article Date: 2010-10-05 |
Journal Detail:
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Title: Brain & development Volume: 33 ISSN: 1872-7131 ISO Abbreviation: Brain Dev. Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-05-16 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: Netherlands |
Other Details:
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Languages: eng Pagination: 530-3 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. |
Affiliation:
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Department of Pediatrics, Graduate School of Medicine, the University of Tokyo. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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