| The molecular basis of the congenital fibrosis syndromes. | |
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MedLine Citation:
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PMID: 12221491 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The congenital fibrosis syndromes (CFS) are rare inherited strabismus syndromes that present as congenital, nonprogressive ophthalmoplegias with active and passive restriction of globe movement, and include classic and atypical forms of congenital fibrosis of the extraocular muscles (CFEOM) and Duane syndrome (DS). Although historically believed to result from primary extraocular muscle fibrosis, both neuropathologic and genetic studies support the hypothesis that these disorders result from aberrant development of motor nuclei in the midbrain and pons. |
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Authors:
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Elizabeth C Engle |
Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Strabismus Volume: 10 ISSN: 0927-3972 ISO Abbreviation: Strabismus Publication Date: 2002 Jun |
Date Detail:
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Created Date: 2002-09-10 Completed Date: 2002-11-26 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 9310896 Medline TA: Strabismus Country: Netherlands |
Other Details:
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Languages: eng Pagination: 125-8 Citation Subset: IM |
Affiliation:
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Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. engle@enders.tch.harvard.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Blepharoptosis
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genetics DNA / analysis Eye Diseases, Hereditary / genetics* Fibrosis / congenital Homeodomain Proteins / genetics Humans Oculomotor Muscles / pathology* Ophthalmoplegia / congenital*, genetics* Pedigree Strabismus / genetics Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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EY12498/EY/NEI NIH HHS; EY13583/EY/NEI NIH HHS; P30 HD18655/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Homeodomain Proteins; 0/PHOX2A protein, human; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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