This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

Case Reports

. 2007 Aug;86(2):165-8.

doi: 10.1007/s12041-007-0021-z.

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome

Jeyabalan Nallathambi¹, Guruswamy Neethirajan, Kim Usha, Jethani Jitendra, Elfride De Baere, Periasamy Sundaresan

Affiliations

PMID: 17968144
DOI: 10.1007/s12041-007-0021-z

Free article

Case Reports

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome

Jeyabalan Nallathambi et al. J Genet. 2007 Aug.

Free article

. 2007 Aug;86(2):165-8.

doi: 10.1007/s12041-007-0021-z.

Authors

Jeyabalan Nallathambi¹, Guruswamy Neethirajan, Kim Usha, Jethani Jitendra, Elfride De Baere, Periasamy Sundaresan

Affiliation

¹ Department of Genetics, Dr G.Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai 625 020, India.

PMID: 17968144
DOI: 10.1007/s12041-007-0021-z

No abstract available

PubMed Disclaimer

Similar articles

FOXL2 gene mutations and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported records.
Xu Y, Lei H, Dong H, Zhang L, Qin Q, Gao J, Zou Y, Yan X. Xu Y, et al. Mutagenesis. 2009 Sep;24(5):447-53. doi: 10.1093/mutage/gep028. Epub 2009 Jul 10. Mutagenesis. 2009. PMID: 19592504
Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency.
Yang XW, He WB, Gong F, Li W, Li XR, Zhong CG, Lu GX, Lin G, Du J, Tan YQ. Yang XW, et al. Mol Genet Genomic Med. 2018 Mar;6(2):261-267. doi: 10.1002/mgg3.366. Epub 2018 Jan 29. Mol Genet Genomic Med. 2018. PMID: 29378385 Free PMC article.
[The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome].
Tang SJ, Wang XK, Wang YL, Lin LX, Sun Y. Tang SJ, et al. Zhonghua Zheng Xing Wai Ke Za Zhi. 2007 Jan;23(1):48-50. Zhonghua Zheng Xing Wai Ke Za Zhi. 2007. PMID: 17393695 Chinese.
The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.
Méjécase C, Nigam C, Moosajee M, Bladen JC. Méjécase C, et al. Genes (Basel). 2021 Mar 4;12(3):364. doi: 10.3390/genes12030364. Genes (Basel). 2021. PMID: 33806295 Free PMC article. Review.
Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.
De Baere E, Copelli S, Caburet S, Laissue P, Beysen D, Christin-Maitre S, Bouchard P, Veitia R, Fellous M. De Baere E, et al. Pediatr Endocrinol Rev. 2005 Jun;2(4):653-60. Pediatr Endocrinol Rev. 2005. PMID: 16208278 Review.

See all similar articles

Cited by

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.
Shah BM, Dada T, Panda A, Tanwar M, Bhartiya S, Dada R. Shah BM, et al. Indian J Ophthalmol. 2014 Mar;62(3):358-60. doi: 10.4103/0301-4738.121144. Indian J Ophthalmol. 2014. PMID: 24722273 Free PMC article.

References

1. Am J Hum Genet. 1983 Sep;35(5):1020-7 - PubMed
1. Hum Genet. 2007 Mar;121(1):107-12 - PubMed
1. Cytogenet Genome Res. 2003;101(3-4):206-11 - PubMed
1. J Med Genet. 2004 Dec;41(12):932-6 - PubMed
1. Mol Vis. 2004 Jul 09;10:445-9 - PubMed

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- CORE