Article
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
European journal of human genetics : EJHG - 1 Mar 2011
Azmanov Dimitar N, Dimitrova Stanislava, Florez Laura, Cherninkova Sylvia, Draganov Dragomir, Morar Bharti, Saat Rosmawati, Juan Manel, Arostegui Juan I, Ganguly Sriparna, Soodyall Himla, Chakrabarti Subhabrata, Padh Harish, López-Nevot Miguel A, Chernodrinska Violeta, Anguelov Botio, Majumder Partha, Angelova Lyudmila, Kaneva Radka, Mackey David A, Tournev Ivailo, Kalaydjieva Luba
Abstract excerpt
Primary congenital glaucoma (PCG) is a genetically heterogeneous autosomal recessive disorder, which is an important cause of blindness in childhood. The first known gene, CYP1B1, accounts for a variable proportion of cases in most populations. A second gene, LTBP2, was recently reported in assoc...
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