Vieira, Teresa C

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