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A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I.
J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):181-4. doi: 10.1515/jpem-2013-0219.
J Pediatr Endocrinol Metab. 2014.
PMID: 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). ...RE …
OBJECTIVE: A novel insertion in the forkhead transcription factor 2 (FOXL2) was identified in a Chilean patient with blepharophimosis …
FOXL2 in adult-type granulosa cell tumour of the ovary: oncogene or tumour suppressor gene?
Pilsworth JA, Todeschini AL, Neilson SJ, Cochrane DR, Lai D, Anttonen M, Heikinheimo M, Huntsman DG, Veitia RA.
Pilsworth JA, et al.
J Pathol. 2021 Nov;255(3):225-231. doi: 10.1002/path.5771. Epub 2021 Sep 1.
J Pathol. 2021.
PMID: 34338304
In contrast, various loss-of-function mutations in FOXL2 lead to the development of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). BPES is characterised by an eyelid malformation often accompanied with primary ovarian …
In contrast, various loss-of-function mutations in FOXL2 lead to the development of blepharophimosis, ptosis, and ep …
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