Results 141 to 150 of about 25,639 (292)
A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation [PDF]
, 2015 Ping Hu +7 more
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A case of Hallermann-Streiff-Francois syndrome : an ophthalmological perspective [PDF]
, 2017 Hallermann-Streiff-François syndrome is a rare condition which offers multidisciplinary diagnostic and therapeutic challenges. The difficulty in dealing with these cases is compounded by the presentation at a very young age.
Vassallo, James
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Therapeutic Advances in OphthalmologyCongenital aniridia is a rare genetic eye disorder often associated with PAX6 gene mutations, leading to complex ocular manifestations, including aniridia-associated keratopathy (AAK) and cataracts.
Joseph Hu, Chao-Chien Hu
doaj +1 more source
Novel variants in PAX6 gene caused congenital aniridia in two Chinese families [PDF]
, 2017 Rundong Zhang +8 more
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Aplasia-Hipoplasia de iris con carácter hereditario en el gos d'atura [PDF]
, 1996 Se describe el patrón clínico de aplasia-hipoplasia de iris, observado en 16 perros de raza Gos d'atura, como enfermedad de probable origen hereditario, no descrito con anterioridad en la especie canina.The clynical standard of aplasia-hipoplasia of iris
Villagrasa Hijar, Manuel
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Clinical Manifestation of Congenital Aniridia in Indonesia
, 2020 Irawati Irfani +5 more
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ANIRIDIA RESULTING FROM CHROMOSOME 11p13 DELETION (MILLER'S SYNDROME): REPORT OF A CASE [PDF]
, 1984 M. P. FLAHERTY FRACO +2 more
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Aniridia associated with congenital aphakia and secondary glaucoma
Indian Journal of Ophthalmology, 2009 We report a case of aniridia associated with congenital aphakia and secondary glaucoma. A 35-year-old male presented with aniridia, congenital aphakia and secondary glaucoma in both eyes.
Moreker Mayur +3 more
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Origins of Congenital Defects: Epidemiologic Approach [PDF]
, 1967 This presentation consists of several short stories from personal experience to illustrate the complementary nature of epidemiologic and laboratory research in the study of congenital ...
Miller, Robert W.
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GENETIC APPROACHES TO DIFFERENTIAL DIAGNOSIS OF HEREDITARY FORMS OF CONGENITAL ANIRIDIA
, 2017 Tatyana A. Vasilyeva +5 more
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