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Autor:
Mehmet Okyay Kılınç, Vasiliki Ninidu Ninis, Sibel Aylin Uǧur, Beyhan Tüysüz, Mehmet Seven, Sevim Balcı, Judith Goodship, Aslıhan Tolun
Publikováno v:
European Journal of Human Genetics. 11:851-857
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 lin