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Article

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.

The Journal of clinical endocrinology and metabolism - 1 Jan 2003

Vieira Teresa C, Dias da Silva Magnus R, Cerutti Janete M, Brunner Elisa, Borges Mariana, Arnaldi Liliane T, Kopp Peter, Abucham Julio

Abstract excerpt

Combined pituitary hormone deficiency (CPHD) is characterized by impaired production of GH and one or more of the other anterior pituitary hormones. Prophet of Pit-1 (PROP-1), one of the pituitary specific homeodomain transcription factors, is involved in the differentiation of the anterior pituitary cells (somatotrophs, lactotrophs, thyrotrophs, and gonadotrophs), and PROP-1 gene mutations may interfere with the...

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Identifiers

PMID: 12519826
DOI: 10.1210/jc.2001-011872

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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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.PMID 12519826Read ↗

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