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  • Title: Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?
    Author: Naritomi K, Izumikawa Y, Nagataki S, Fukushima Y, Wakui K, Niikawa N, Hirayama K.
    Journal: Am J Med Genet; 1992 Jul 15; 43(5):839-43. PubMed ID: 1642272.
    Abstract:
    We report on 2 girls with a terminal deletion of the short arm of chromosome X. They had microphthalmia, cloudy corneae, mild linear skin lesions, and agenesis of corpus callosum. A comparison of clinical and cytogenetic findings in similar cases suggested that the critical genes for the Goltz and Aicardi syndromes might be contiguous in the region Xp22.31.
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