A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene

By Dumitrescu Alina V.   Milunsky Jeff M.   Longmuir Susannah Q.   Drack Arlene V.  

Ophthalmic Genetics, Vol. 33, Iss. 2, 2012-06 ,pp. : 100-106

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Familial case of Blau syndrome associated with a CARD15/NOD2 mutation

By Villanueva-Mendoza Cristina   Arellanes-García Lourdes   Cubas-Lorenzo Victoria   Jimenez-Martinez Maria C.   Flores-Suárez Luis Felipe   Zenteno Juan Carlos  

Ophthalmic Genetics, Vol. 31, Iss. 3, 2010-09 ,pp. : 155-158

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Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion

By Chacón-Camacho Oscar   Arce-Gonzalez Rocio   Granillo-Alvarez Mariella   Flores-Limas Sanjuanita   Ramírez Magdalena   Zenteno Juan C.  

Ophthalmic Genetics, Vol. 34, Iss. 4, 2013-12 ,pp. : 243-248

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Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation

By Vaclavik V.   Schorderet D. F.   Borruat F-X.   Munier F. L.  

Ophthalmic Genetics, Vol. 32, Iss. 2, 2011-06 ,pp. : 114-117

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A novel KERA mutation associated with autosomal recessive cornea plana

By Khan Arif   Kambouris Marios  

Ophthalmic Genetics, Vol. 25, Iss. 2, 2004-06 ,pp. : 147-152

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