Concepedia

New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype

Souzan Salemi, Amélie Besson, Andrée Eblé, Sabina Gallati, Roland Pfäffle, Primus E. Mullis

Growth Hormone & IGF Research · 2003 · 32 citations · 20 references

DOI

Concepts

References

20

A tissue-specific transcription factor containing a homeodomain specifies a pituitary phenotype

Holly A. Ingraham, Ruoping Chen, Harry J. Mangalam et al. · Cell · 1988 · 1K citations

, , +14

Consensus Guidelines for the Diagnosis and Treatment of Growth Hormone (GH) Deficiency in Childhood and Adolescence: Summary Statement of the GH Research Society

The Journal of Clinical Endocrinology & Metabolism · 2000 · 822 citations

, , +14

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

A Mutation in the POU-Homeodomain of Pit-1 Responsible for Combined Pituitary Hormone Deficiency

Sally Radovick, Michelle Nations, Yuefen Du et al. · Science · 1992 · 450 citations

, , +17

Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene

Ke‐ita Tatsumi, K Miyai, Tsugunori Notomi et al. · Nature Genetics · 1992 · 341 citations

, , +14