Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay. [electronic resource]
- The Journal of clinical endocrinology and metabolism Jan 2003
- 38-44 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0021-972X
10.1210/jc.2001-011872 doi
Adolescent Adult Animals Base Sequence--genetics Child DNA--metabolism DNA Mutational Analysis Female Gene Expression Growth Disorders--etiology Homeodomain Proteins--genetics Humans Male Metabolism, Inborn Errors--complications Mice Molecular Sequence Data Mutation--genetics Pedigree Pituitary Hormones--deficiency Protein Structure, Tertiary--genetics Transfection