Article
Is the novel SCKL3 at 14q23 the predominant Seckel locus?
European journal of human genetics : EJHG - 1 Nov 2003
Kilinç Mehmet Okyay, Ninis Vasiliki Ninidu, Ugur Sibel Aylin, Tüysüz Beyhan, Seven Mehmet, Balci Sevim, Goodship Judith, Tolun Aslihan
Abstract excerpt
Seckel syndrome (SCKL) is a rare disease with wide phenotypic heterogeneity. A locus (SCKL1) has been identified at 3q and another (SCKL2) at 18p, both in single kindreds afflicted with the syndrome. We report here a novel locus (SCKL3) at 14q by linkage analysis in 13 Turkish families. In total, 18 affected and 10 unaffected sibs were included in the study. Of the 10 informative families, nine with parental...
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