| Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. | |
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MedLine Citation:
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PMID: 19353645 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Rubinstein-Taybi syndrome (RSTS) is a heterogeneous disorder with approximately 45-55% of patients showing mutations in the CREB binding protein and a further 3% of patients having mutations in EP300. We report a male child with a deletion of exons 3-8 of the EP300 gene who has RSTS. He has a milder skeletal phenotype, a finding that has been described in other cases with EP300 mutations. The mother suffered from pre-eclampsia and HELLP syndrome in the pregnancy. She subsequently developed a mullerian tumor of her cervix 6 years after the birth of her son. |
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Authors:
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Patricia Foley; David Bunyan; John Stratton; Michelle Dillon; Sally Ann Lynch |
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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. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 May |
Date Detail:
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Created Date: 2009-05-04 Completed Date: 2009-06-18 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 997-1000 Citation Subset: IM |
Affiliation:
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Our Lady's Childrens Hospital, National Centre for Medical Genetics, Dublin, Crumlin, Ireland. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Chromosomes, Human, Pair 22 DNA Mutational Analysis E1A-Associated p300 Protein / genetics* Humans Male Rubinstein-Taybi Syndrome / genetics* Sequence Deletion |
| Chemical | |
Reg. No./Substance:
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EC 2.3.1.48/E1A-Associated p300 Protein; EC 2.3.1.48/EP300 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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