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Article

New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype.

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Oct 2003

Salemi Souzan, Besson Amélie, Eblé Andrée, Gallati Sabina, Pfäffle Roland W, Mullis Primus E

Abstract excerpt

OBJECTIVE: Growth is an inherent property of life. About 10% of the congenital forms of growth retardation and short stature are genetically caused. Beside the gene involved in direct GH-production, there are different candidate genes important for appropriate pituitary development causing combined pituitary hormone deficiency (CPHD). However, severe growth retardation and failure to thrive remain the leading...

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PMID: 12932747
DOI: 10.1016/s1096-6374(03)00015-7

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

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