Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report
Abstract Background FOXL2 gene mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and may be associated with premature ovarian insufficiency (POI). Two types of BPES were described in the literature. BPES type 2 is a simple association of inherited developmental defects of t...
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| Автори: | , , , , |
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| Формат: | Книга |
| Опубліковано: |
BMC,
2019-07-01T00:00:00Z.
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Connect to this object online.3rd Floor Main Library
| Шифр: |
A1234.567 |
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| Примірник 1 | Доступно |