Evidence for Increased SOX3 Dosage as a Risk Factor for X-Linked Hypopituitarism and Neural Tube Defects

Marijke Bauters, Suzanna G. Frints, Hilde Van Esch, Liesbeth Spruijt, Marcella M. Baldewijns, Christine E. M. de Die-Smulders, Jean-Pierre Fryns, Peter Marynen, Guy Froyen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

20 Citations (Web of Science)
Original languageEnglish
Pages (from-to)1947-1952
JournalAmerican Journal of Medical Genetics Part A
Volume164
Issue number8
DOIs
Publication statusPublished - Aug 2014

Keywords

  • X-linked hypopituitarism
  • growth hormone deficiency
  • SOX3 duplication
  • neural tube defect
  • gene overexpression

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