| Gorlin syndrome with ulcerative colitis in a Japanese girl. | |
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MedLine Citation:
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PMID: 12900905 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present the case of a 14-year-old Japanese girl who had both Gorlin syndrome and ulcerative colitis. She had complained of blood stools for 6 months and severe scoliosis from her infancy. Physical examination revealed multiple nevi, palmar and plantar pits, jaw cysts, and calcification of the falx cerebri, leading to the diagnosis of Gorlin syndrome. Total colonoscopy revealed an edematous and spotty bleeding mucosa extending from the anus to the transverse colon. Histological examination was also compatible with ulcerative colitis. Thus, we diagnosed her as having Gorlin syndrome with ulcerative colitis. Gene analysis revealed a mutation, 1247InsT, in the human patched gene (PTCH), resulting in the truncation of PTCH protein. Since Gorlin syndrome and ulcerative colitis are rare disorders in childhood, this association is interesting, suggesting a correlation between the hedgehog signaling and intestinal disorders. |
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Authors:
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Katsunori Fujii; Toshiyuki Miyashita; Taku Omata; Kazuhiko Kobayashi; Jun-ichi Takanashi; Katsunori Kouchi; Masao Yamada; Yoichi Kohno |
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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: 121A ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2003 Aug |
Date Detail:
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Created Date: 2003-08-05 Completed Date: 2004-03-17 Revised Date: 2008-05-21 |
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: 65-8 Citation Subset: IM |
Copyright Information:
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Copyright 2003 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan. kfujii@faculty.chiba-u.jp |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/109400 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Amino Acid Sequence Basal Cell Nevus Syndrome / complications, genetics* Base Sequence Colitis, Ulcerative / complications, genetics* Female Frameshift Mutation / genetics* Humans Japan Membrane Proteins / genetics* Molecular Sequence Data Phenotype Receptors, Cell Surface Sequence Analysis, DNA |
| Chemical | |
Reg. No./Substance:
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0/Membrane Proteins; 0/Receptors, Cell Surface; 0/patched receptors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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