Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications

Idske C L Kremer Hovinga, Jacques C Giltay, Saskia N van der Crabben, Anja Steyls, Hetty J van der Kamp, Aimee D C Paulussen

Research output: Contribution to journalArticleAcademicpeer-review

8 Citations (Scopus)
Original languageEnglish
Pages (from-to)378-380
Number of pages3
JournalClinical endocrinology
Volume89
Issue number3
DOIs
Publication statusPublished - Sept 2018

Keywords

  • Child
  • Female
  • Genotype
  • Humans
  • Hypopituitarism/genetics
  • Male
  • Mutation/genetics
  • Nuclear Proteins/genetics
  • Phenotype
  • Polydactyly/genetics
  • Zinc Finger Protein Gli2/genetics

Cite this