PMID: 9182773Jun 27, 1997Paper

Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins

American Journal of Medical Genetics
P Ashton-Prolla, T M Félix

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.

Citations

Aug 17, 1999·American Journal of Medical Genetics·N A PagnanF Poerner

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