A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: Differential role of the polyalanine tract in the development of the ovary and the eyelid

Author： Kosaki Kenjiro   Ogata Tsutomu   Kosaki Rika   Sato Seiji   Matsuo Nobutake  

Publisher： Informa Healthcare

ISSN： 1381-6810

Source： Ophthalmic Genetics, Vol.23, Iss.1, 2002-03, pp. : 43-47

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Congenital Alacrima in a Patient with Blepharophimosis Syndrome

By Athappilly Geetha   Braverman Rebecca Sands  

Ophthalmic Genetics, Vol. 30, Iss. 1, 2009-03 ,pp. : 37-39

Informa Healthcare

Access to resources Recommend Favorite

A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome

By Brooks Brian P.   Moroi Sayoko E.   Downs Catherine A.   Wiltse Shannon   Othman Mohammad I.   Semina Elena V.   Richards Julia E.  

Ophthalmic Genetics, Vol. 25, Iss. 1, 2004-03 ,pp. : 57-62

Informa Healthcare

Access to resources Recommend Favorite

A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti’s Crystalline Corneoretinal Dystrophy

By  

Case Reports in Ophthalmology, Vol. 2, Iss. 3, 2011-09 ,pp. : 296-301

Karger

Access to resources Recommend Favorite

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

By Aliferis K.   Marsal C.   Pelletier V.   Doray B.   Weiss M.M.   Tops C.M.J.   Speeg-Schatz C.   Lesnik S.A.J.   Dollfus H.  

Ophthalmic Genetics, Vol. 31, Iss. 4, 2010-12 ,pp. : 205-208

Informa Healthcare

Access to resources Recommend Favorite

A Novel Homozygous Gly107Arg Mutation in the RDH5 Gene in a Japanese Patient with Fundus albipunctatus with Sectorial Retinitis pigmentosa

By  

Ophthalmic Research, Vol. 36, Iss. 1, 2004-03 ,pp. : 43-50

Karger

Access to resources Recommend Favorite