Results 161 to 170 of about 5,544 (177)

Congenital Aniridia with Cataract

2023
openaire   +1 more source

Nephroblastoma (Wilms Tumor) and Congenital Aniridia

Journal of Urology, 1969
J R, Woodard, M K, Levine
openaire   +2 more sources

A Novel CYP1B1 Mutation with Congenital Glaucoma and Total Aniridia

Ophthalmic Genetics, 2015
Khaled K Abu-Amero, Sami Al-Shahwan
exaly  

Congenital aniridia.

Revista de la Asociacion Medica Argentina, 2010
J, LIJO PAVIA, R, LACHMAN
openaire   +1 more source

Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism

Molecular Genetics & Genomic Medicine, 2018
Zhouxian Bai, Xiangdong Kong
exaly  

Congenital aniridia& traumatic aniridia: diagnosis, monitoring and management.

Congenital aniridia is a rare genetic disorder characterized by hypoplasia or absence of the iris, reduced visual acuity, and nystagmus secondary to foveal hypoplasia. Aniridia occurs in approximately 1.8 per 100,000 live births. About two-thirds of cases are inherited in an autosomal dominant pattern (familial cases, in which one of the parents is ...
openaire  

A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia

Genetic Testing and Molecular Biomarkers, 2019
Ying Xiao, Chen Yang, Bo Gong
exaly  

A NovelPAX6Mutation in Chinese Patients with Severe Congenital Aniridia

Current Eye Research, 2012
exaly  

Congenital Aniridia.

Transactions of the American Ophthalmological Society, 2006
openaire   +1 more source

Standardized Assessment of Health-Related Quality of Life in Patients with Congenital Aniridia

Klinische Monatsblatter Fur Augenheilkunde
Fabian N Fries, Barbara Käsmann-Kellner, Annamaria Naray   +2 more
exaly