| Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. | |
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MedLine Citation:
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PMID: 12630957 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is presented. This study detected two novel FOXL2 mutations (missence and nonsens mutations) and confirmed the recurrence of a previously described duplication. Magnetic Resonance Imaging (MRI) of the orbit, in one family, showed absence or hypotrophy of the eyelid superior levator muscle suggesting a possible role of FOXL2 in the development of this extra-ocular muscle. |
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Authors:
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H Dollfus; C Stoetzel; S Riehm; W Lahlou Boukoffa; F Bediard Boulaneb; R Quillet; M Abu-Eid; C Speeg-Schatz; J J Francfort; J Flament; F Veillon; F Perrin-Schmitt |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 63 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 2003 Feb |
Date Detail:
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Created Date: 2003-03-12 Completed Date: 2003-10-27 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 117-20 Citation Subset: IM |
Affiliation:
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LGME du CNRS, U-184 INSERM, Faculté de Médecine, Clinique Ophtalmologique and Département de Radiologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Helene.Dollfus@medecine.u-strasbg.FR |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Blepharophimosis / genetics*, pathology Blepharoptosis / genetics*, pathology Child, Preschool DNA Mutational Analysis DNA-Binding Proteins / genetics* Facial Muscles / pathology* Female Forkhead Transcription Factors Humans Infant Magnetic Resonance Imaging Male Pedigree Transcription Factors / genetics* |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; 0/FOXL2 protein, human; 0/Forkhead Transcription Factors; 0/Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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