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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2010-3-19
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pubmed:abstractText |
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominant developmental disorder that includes an eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). Mutations in the forkhead transcription factor 2 (FOXL2) gene, a member of winged/forkhead transcription factor family, are responsible for both types of BPES. The purpose of this study was to identify mutations in FOXL2 in Taiwanese patients with BPES.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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|
pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1434-6621
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
48
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
485-8
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pubmed:meshHeading |
pubmed-meshheading:20184535-Adolescent,
pubmed-meshheading:20184535-Asian Continental Ancestry Group,
pubmed-meshheading:20184535-Blepharophimosis,
pubmed-meshheading:20184535-Blepharoptosis,
pubmed-meshheading:20184535-Child,
pubmed-meshheading:20184535-Child, Preschool,
pubmed-meshheading:20184535-Eyelids,
pubmed-meshheading:20184535-Female,
pubmed-meshheading:20184535-Forkhead Transcription Factors,
pubmed-meshheading:20184535-Humans,
pubmed-meshheading:20184535-Karyotyping,
pubmed-meshheading:20184535-Male,
pubmed-meshheading:20184535-Mutation,
pubmed-meshheading:20184535-Sequence Analysis, DNA,
pubmed-meshheading:20184535-Syndrome,
pubmed-meshheading:20184535-Taiwan
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pubmed:year |
2010
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pubmed:articleTitle |
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
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pubmed:affiliation |
Department of Medical Research, China Medical University Hospital, Taichung, Taiwan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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