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]
Producer: 20030211Description: 38-44 p. digitalISSN:- 0021-972X
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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