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Phenotypic homogeneity and genotypic variability in a (...)

J Clin Endocrinol Metab. 2012 Mar ;97(3):E486-95
Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.
Couture C, Saveanu A, Barlier A, Carel JC, Fassnacht M, Fluck CE, Houang M, Maes M, Phan-Hug F, Enjalbert A, Drouin J, Brue T, Vallette S.

Congenital isolated ACTH deficiency (IAD) is a rare disease characterized by low plasma ACTH and cortisol levels and preservation of all other pituitary hormones. This condition was poorly defined before we identified TPIT, a T-box transcription factor with a specific role in differentiation of the corticotroph lineage in mice and humans, as its principal molecular cause.

PubMed

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