| Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion. | |
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MedLine Citation:
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PMID: 18478595 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Langer-Giedion syndrome results from a microdeletion at 8q24.1 encompassing the EXT1 and the adjacent TRPS1 gene. We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance of TRPS1. This boy, in addition to a mild Langer-Giedion like phenotype, also had some unusual features including prominent toe pads and fat pads on the soles of his feet similar to those described in Pierpont syndrome. |
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Authors:
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Jacqueline McBrien; John Anthony Crolla; Shuwen Huang; Jerry Kelleher; John Gleeson; 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: 146A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-05-27 Completed Date: 2008-06-16 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: 1587-92 Citation Subset: IM |
Copyright Information:
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2008 Wiley-Liss, Inc. |
Affiliation:
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Our Lady's Children's Hospital, National Centre for Medical Genetics, Dublin, Ireland. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adipose Tissue
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abnormalities Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 8 / genetics* DNA-Binding Proteins / genetics* Humans In Situ Hybridization, Fluorescence Karyotyping Langer-Giedion Syndrome / diagnosis*, genetics*, radiography Male N-Acetylglucosaminyltransferases / genetics* Oligonucleotide Array Sequence Analysis Phenotype Toes / abnormalities Transcription Factors / genetics* |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; 0/TRPS1 protein, human; 0/Transcription Factors; EC 2.4.1.-/N-Acetylglucosaminyltransferases; EC 2.4.1.224/exostosin-1 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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