Congenital cataract is a major cause of visual impair-ment and childhood blindness [1]. Nonsyndromic congenital cataracts have an estimated frequency of 1–6 per 10,000 live births, with 1/3 of cases having a positive family history [2]. Among these families, an autosomal dominant genotype is the most prevalent [3]. To date, at least 19 genes have been reported to be linked with different modes of nonsyndromic autosomal dominant congenital cataract. These genes encode for numerous crystallins: alpha A crystallin (CRYAA) [4], alpha B crystallin (CRYAB) [5], beta A1/A3 crystalli
The crystallins were discovered more than 100 years ago by Morner (1893. Untersuchungen der Proteins...
Autosomal dominant congenital cataract (ADCC) is the most common form of inherited cataracts and acc...
Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the ge...
Congenital cataracts are an important cause of bilateral visual impairment in infants. In a four-gen...
Background: The crystalline lens is mainly composed of a large family of soluble proteins called th...
Congenital cataract is a rare but severe paediatric visual impediment, often caused by variants in o...
Cataract is one of the major causes of blindness in hu-mans. We describe here an autosomal dominant ...
Congenital cataract is a leading cause of visual disability in children. Inherited isolated (non-syn...
PurposeTo identify the molecular basis for autosomal recessively inherited congenital non-syndromic ...
Congenital cataract is a major cause of visual impairment and childhood blindness. The solubility an...
Beta B<sub>2</sub>-crystallin is the most abundant crystallin in the β-family, which plays an import...
Hereditary cataract is a phenotypically and genetically heterogeneous tens disease that is responsib...
SummaryDespite the fact that cataracts constitute the leading cause of blindness worldwide, the mech...
Autosomal dominant cataract is a clinically and genetically heterogeneous lens disorder that usually...
Background: Previous familial studies have reported co-segregation of mutation in gamma crystallin A...
The crystallins were discovered more than 100 years ago by Morner (1893. Untersuchungen der Proteins...
Autosomal dominant congenital cataract (ADCC) is the most common form of inherited cataracts and acc...
Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the ge...
Congenital cataracts are an important cause of bilateral visual impairment in infants. In a four-gen...
Background: The crystalline lens is mainly composed of a large family of soluble proteins called th...
Congenital cataract is a rare but severe paediatric visual impediment, often caused by variants in o...
Cataract is one of the major causes of blindness in hu-mans. We describe here an autosomal dominant ...
Congenital cataract is a leading cause of visual disability in children. Inherited isolated (non-syn...
PurposeTo identify the molecular basis for autosomal recessively inherited congenital non-syndromic ...
Congenital cataract is a major cause of visual impairment and childhood blindness. The solubility an...
Beta B<sub>2</sub>-crystallin is the most abundant crystallin in the β-family, which plays an import...
Hereditary cataract is a phenotypically and genetically heterogeneous tens disease that is responsib...
SummaryDespite the fact that cataracts constitute the leading cause of blindness worldwide, the mech...
Autosomal dominant cataract is a clinically and genetically heterogeneous lens disorder that usually...
Background: Previous familial studies have reported co-segregation of mutation in gamma crystallin A...
The crystallins were discovered more than 100 years ago by Morner (1893. Untersuchungen der Proteins...
Autosomal dominant congenital cataract (ADCC) is the most common form of inherited cataracts and acc...
Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the ge...