Severe Form of Familial Exudative Vitreoretinopathy Caused by Homozygous R417Q Mutation in Frizzled-4 Gene

By Kondo Hiroyuki   Qin Minghui   Tahira Tomoko   Uchio Eiichi   Hayashi Kenshi  

Ophthalmic Genetics, Vol. 28, Iss. 4, 2007-10 ,pp. : 220-223

Informa Healthcare

Access to resources Recommend Favorite

Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation

By  

Ophthalmic Research, Vol. 53, Iss. 1, 2014-12 ,pp. : 30-35

Karger

Access to resources Recommend Favorite

Familial Blepharophimosis-Like Syndrome with Esotropia, Uveal Coloboma, and Short Stature

By Khan Arif   Alam Syed   Aldahmesh Mohammed   Rajab Mohammed   Meyer Brian  

Ophthalmic Genetics, Vol. 27, Iss. 3, 2006-09 ,pp. : 79-82

Informa Healthcare

Access to resources Recommend Favorite

SHORT COMMUNICATION: A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase β-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa

By Saga Masamichi   Mashima Yukihiko   Akeo Kiyoshi   Kudoh Jun   Oguchi Yoshihisa   Shimizu Nobuyoshi  

Current Eye Research, Vol. 17, Iss. 3, 1998-03 ,pp. : 332-335

Informa Healthcare

Access to resources Recommend Favorite

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

By Khan Arif O.   Aldahmesh Mohammed A.   Alkuraya Fowzan S.  

Ophthalmic Genetics, Vol. 33, Iss. 4, 2012-12 ,pp. : 257-259

Informa Healthcare

Access to resources Recommend Favorite