| Fragile X syndrome. | |
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MedLine Citation:
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PMID: 16010677 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome, the most common genetic disorder associated with mental retardation is caused by an expansion of the unstable CGG repeat within the FMR1 gene. Although overgrowth is not the main hallmark of this condition, the fragile X syndrome is usually included in the differential diagnosis of children with mental retardation and excess growth. This review highlights the most recent advances in the field of fragile X research. |
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Authors:
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Alessandra Terracciano; Pietro Chiurazzi; Giovanni Neri |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: American journal of medical genetics. Part C, Seminars in medical genetics Volume: 137C ISSN: 1552-4868 ISO Abbreviation: - Publication Date: 2005 Aug |
Date Detail:
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Created Date: 2005-07-26 Completed Date: 2005-09-28 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235745 Medline TA: Am J Med Genet C Semin Med Genet Country: United States |
Other Details:
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Languages: eng Pagination: 32-7 Citation Subset: IM |
Copyright Information:
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Copyright 2005 Wiley-Liss, Inc. |
Affiliation:
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Institute of Medical Genetics of Catholic University, Rome, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Ataxia
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complications,
genetics Female Fragile X Mental Retardation Protein Fragile X Syndrome / complications, genetics*, physiopathology*, therapy Humans Nerve Tissue Proteins / chemistry, genetics, metabolism Ovarian Failure, Premature / complications, genetics Protein Binding RNA-Binding Proteins / chemistry, genetics, metabolism |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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