Article
Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects.
Hormone research - 1 Jan 2002
Crone J, Pfäffle R, Stobbe H, Prayer D, Gomez I, Frisch H
Abstract excerpt
BACKGROUND: Mutations of the prophet of PIT-1 (PROP-1), a paired-like homeodomain transcription factor which is responsible for early embryonic pituitary development, have recently been reported as a cause of combined pituitary hormone deficiency. METHODS: We describe the phenotype, long-term auxological data and MRI findings in two families with 4 affected members, all of whom have a mutation of the PROP-1 gene....
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