Article
Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.
Ophthalmic genetics - 1 Jun 2007
Aldave Anthony J, Sonmez Baris, Bourla Nirit, Schultz Gerald, Papp Jeanette C, Salem Andrew K, Rayner Sylvia A, Yellore Vivek S
Abstract excerpt
PURPOSE: To determine the genetic basis of autosomal dominant cornea plana (CNA1) through the performance of a genome-wide linkage analysis and screening of the decorin (DCN), dermatan sulfate proteoglycan 3 (DSPG3), forkhead box C1 (FOXC1), keratocan (KERA), lumican (LUM,) and paired-like homeodomain transcription factor 2 (PITX2) genes in members of an affected multigenerational family. METHODS: Cycloplegic...
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