eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | blepharophimosis, ptosis, and epicanthus inversus |
| Comorbidity | C0085215|premature ovarian failure |
| Sentences | 4 |
| PubMedID- 24030029 | Objective: a novel insertion in the forkhead transcription factor 2 (foxl2) was identified in a chilean patient with blepharophimosis, ptosis, and epicanthus inversus syndrome associated with premature ovarian failure (bpes type i). |
| PubMedID- 24817949 | Foxl2 is a transcription factor that is essential for ovarian function and maintenance, the germline mutations of which give rise to the blepharophimosis ptosis epicanthus inversus syndrome (bpes), often associated with premature ovarian failure. |
| PubMedID- 21289058 | Foxl2 is a transcription factor that is essential for ovarian function and maintenance, the germline mutations of which are responsible for the blepharophimosis ptosis epicanthus-inversus syndrome (bpes), often associated with premature ovarian failure. |
| PubMedID- 21765846 | bpes may be with premature ovarian failure (type i) or without premature ovarian failure (type ii). |
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