PLoS ONE · 2009 · 35 citations · 8 references
Natural ResourcesEnvironmental PolicyEnvironmental SciencesSustainable DevelopmentWater GovernanceWater PolicyEnvironmental SanitationSanitation ManagementSanitation PolicySanitation PracticesWater ManagementWater SanitationEcological SanitationEquitable Sanitation AccessPublic Health SanitationSanitationSanitation Infrastructure ManagementSanitation Public-private PartnershipsSanitation System SustainabilitySanitation Systems
Among twenty-five screened families, eight families (PCG50, 52-54, 58, 59, 63 and 67) were segregating disease causing variants in recessive manner. Two families (PCG049 and PCG062) had compound heterozygosity. Our data confirms genetic heterogeneity of PCG in Pakistani population however we did not find molecular variants segregating with PCG in fifteen families in coding exons and intron-exon boundaries of CYP1B1 gene. Genetic counseling was provided to families to refrain from practicing consanguinity and perform premarital screening as a PCG control measure in upcoming generations.
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Molecular genetics of primary congenital glaucoma in Brazil.
Ivaylo Stoilov, Vital Paulino Costa, José Paulo Cabral de Vasconcellos et al. · PubMed · 2002 · 153 citations
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.
Haiba Kaul, Sheikh Riazuddin, Mariam Shahid et al. · PubMed · 2010 · 95 citations