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  • Title: Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins.
    Author: Ashton-Prolla P, Félix TM.
    Journal: Am J Med Genet; 1997 Jun 27; 70(4):353-6. PubMed ID: 9182773.
    Abstract:
    Say syndrome is a rare condition characterized by cleft palate, short stature, and microcephaly. Abu-Libdeh et al. [1993: Am J Med Genet 45:358-360] described a case with cystic renal dysplasia. We describe monozygotic twins discordant for the syndrome with kidney dysplasia. A postzygotic mutation is proposed as the cause of this autosomal dominant syndrome in this case.
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