| Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome. | |
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MedLine Citation:
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PMID: 19863561 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Combined immunodeficiency (SCID) can be isolated and involve the immune system only or associated with abnormalities affecting other organs, mainly the skeletal and neurological systems. We report on sisters, born to consanguineous parents, with CID, facial dysmorphism, developmental delay, optic atrophy, myoclonic seizures, and skeletal anomalies. To the best of our knowledge, this is a hitherto new syndrome with most probably autosomal recessive inheritance and unknown etiology. |
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Authors:
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C M Roifman; D Chitayat |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 76 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2009 Nov |
Date Detail:
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Created Date: 2009-10-29 Completed Date: - Revised Date: - |
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: 449-57 Citation Subset: IM |
Affiliation:
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Division of Immunology and Allergy, The Hospital for Sick Children and The University of Toronto, Toronto, Ontario, Canada. chaim.roifman@sickkids.ca |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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