Article
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).
The Journal of clinical endocrinology and metabolism - 1 Oct 1998
Flück C, Deladoey J, Rutishauser K, Eblé A, Marti U, Wu W, Mullis P E
Abstract excerpt
As pituitary function depends on the integrity of the hypothalamic-pituitary axis, any defect in the development and organogenesis of this gland may account for a form of combined pituitary hormone deficiency (CPHD). A mutation in a novel, tissue-specific, paired-like homeodomain transcription fa...
Topics
- Adrenocorticotropic Hormone
- Amino Acid Substitution
- Child
- Child, Preschool
- Codon
- Female
- Homeodomain Proteins
- Humans
- Infant
- Male
- Mutation
- Pedigree
- Phenotype
- Pituitary Hormones
- Transcription Factors