Article
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
European journal of medical genetics - 1 Feb 2015
Mauri Lucia, Franzoni Alessandra, Scarcello Manuela, Sala Stefano, Garavelli Livia, Modugno Alessandra, Grammatico Paola, Patrosso Maria Cristina, Piozzi Elena, Del Longo Alessandra, Gesu Giovanni P, Manfredini Emanuela, Primignani Paola, Damante Giuseppe, Penco Silvana
Abstract excerpt
Anophthalmia (A) and microphthalmia (M) are rare developmental anomalies that have significant effects on visual activity. In fraction of A/M subjects, single genetic defects have been identified as causative. In this study we analysed 65 Italian A/M patients, 21 of whom are syndromic, for mutations in SOX2, OTX2 and PAX6 genes. In syndromic patients the presence of genome imbalances through array CGH was also...
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