Recessive Congenital Total Cataract with Microcornea and Heterozygote Carrier Signs Caused by a Novel Missense CRYAA Mutation (R54C)

American Journal of Ophthalmology

Volumn 144, Issue 6, 2007, Pages

  Khan, Arif O ^a   Aldahmesh, Mohammad A ^b   Meyer, Brian ^b  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA CRYSTALLIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONGENITAL CATARACT; CONGENITAL TOTAL WHITE CATARACT WITH MICROCORNEA; CORNEA DISEASE; CRYAA GENE; FEMALE; GENE; GENE SEQUENCE; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROSPECTIVE STUDY; SIBLING;

EID: 36249024863     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2007.08.005     Document Type: Article

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