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Turner syndrome and haploinsufficiency

  • University of Texas Southwestern Medical Center
  • Thomas Jefferson University

Research output: Contribution to journalArticlepeer-review

109 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)322-327
Number of pages6
JournalCurrent Opinion in Genetics and Development
Volume8
Issue number3
DOIs
StatePublished - Jun 1998
Externally publishedYes

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