|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0005744,
umls-concept:C0024485,
umls-concept:C0026882,
umls-concept:C0039082,
umls-concept:C0205422,
umls-concept:C0241888,
umls-concept:C0430054,
umls-concept:C1282910,
umls-concept:C1412815,
umls-concept:C1705053,
umls-concept:C1707990,
umls-concept:C2603343
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|
pubmed:issue |
2
|
|
pubmed:dateCreated |
2003-3-12
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|
pubmed:abstractText |
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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pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Feb
|
|
pubmed:issn |
0009-9163
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|
pubmed:author |
pubmed-author:Abu-EidMM,
pubmed-author:Bediard BoulanebFF,
pubmed-author:DollfusHH,
pubmed-author:FlamentJJ,
pubmed-author:FrancfortJ JJJ,
pubmed-author:Lahlou BoukoffaWW,
pubmed-author:Perrin-SchmittFF,
pubmed-author:QuilletRR,
pubmed-author:RiehlRR,
pubmed-author:Speeg-SchatzCC,
pubmed-author:StoetzelCC,
pubmed-author:VeillonFF
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|
pubmed:issnType |
Print
|
|
pubmed:volume |
63
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
117-20
|
|
pubmed:dateRevised |
2005-11-17
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|
pubmed:meshHeading |
pubmed-meshheading:12630957-Adult,
pubmed-meshheading:12630957-Blepharophimosis,
pubmed-meshheading:12630957-Blepharoptosis,
pubmed-meshheading:12630957-Child, Preschool,
pubmed-meshheading:12630957-DNA Mutational Analysis,
pubmed-meshheading:12630957-DNA-Binding Proteins,
pubmed-meshheading:12630957-Facial Muscles,
pubmed-meshheading:12630957-Female,
pubmed-meshheading:12630957-Forkhead Transcription Factors,
pubmed-meshheading:12630957-Humans,
pubmed-meshheading:12630957-Infant,
pubmed-meshheading:12630957-Magnetic Resonance Imaging,
pubmed-meshheading:12630957-Male,
pubmed-meshheading:12630957-Pedigree,
pubmed-meshheading:12630957-Transcription Factors
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|
pubmed:year |
2003
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|
pubmed:articleTitle |
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.
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|
pubmed:affiliation |
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
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pubmed:publicationType |
Journal Article,
Case Reports
|
