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Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes

Eleonore Bertko, Jürgen Klammt, Petra Dušátková, Mithat Bahçeci, Louise ten Have, Nurgün Kandemir, G. Mansmann, Barbora Obermannová, Wilma Oostdijk, Heike Pfäffle,

Journal of Human Genetics · 2017 · 29 citations · 38 references

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References

38

Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1

Sen Li, E. Bryan Crenshaw, Elizabeth J. Rawson et al. · Nature · 1990 · 1.2K citations

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Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism

Mark W. Sornson, Wei Wu, Jeremy S. Dasen et al. · Nature · 1996 · 792 citations

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Mutation of the POU-Specific Domain of Pit-1 and Hypopituitarism Without Pituitary Hypoplasia

Roland Pfäffle, Gabriel E. DiMattia, John S. Parks et al. · Science · 1992 · 456 citations

, , +17

Phenotypic Variability in Familial Combined Pituitary Hormone Deficiency Caused by a PROP1 Gene Mutation Resulting in the Substitution of Arg→Cys at Codon 120 (R120C)1

Christa E. Flück, Johnny Deladoëy, Kuno Rutishauser et al. · The Journal of Clinical Endocrinology & Metabolism · 1998 · 205 citations · Full text

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The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency1

Joy D. Cogan, Wei Wu, Ivo J.P. Arnhold et al. · The Journal of Clinical Endocrinology & Metabolism · 1998 · 189 citations · Full text

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