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Turner syndrome and haploinsufficiency

1998; Elsevier BV; Volume: 8; Issue: 3 Linguagem: Inglês

10.1016/s0959-437x(98)80089-0

1879-0380

Andrew R. Zinn, Judith L. Ross,

Animal Genetics and Reproduction

Turner syndrome was one of the first human genetic disorders ascribed to haploinsufficiency but the identification of specific genes responsible for the phenotype has been problematic. Recent data point to several candidate genes, some new and some old, for specific aspects of the phenotype associated with monosomy X in humans.