Article
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).
Clinical endocrinology - 1 Jul 2005
Turton James P G, Mehta Ameeta, Raza Jamal, Woods Kathryn S, Tiulpakov Anatoly, Cassar Joseph, Chong Kling, Thomas Paul Q, Eunice Marumudi, Ammini Ariachery C, Bouloux Pierre M, Starzyk Jerzy, Hindmarsh Peter C, Dattani Mehul T
Abstract excerpt
OBJECTIVE: Mutations within the pituitary-specific paired-like homeobox gene PROP1 have been described in 50-100% of patients with familial combined pituitary hormone deficiency (CPHD). We screened a cohort of sporadic (n = 189) and familial (n = 44) patients with hypopituitarism (153 CPHD and 80 isolated hormone deficiencies) for mutations within the coding sequence of PROP1. DESIGN AND PATIENTS: Patients with...
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