Phenotypic Homogeneity and Genotypic Variability in a Large Series of Congenital Isolated ACTH-Deficiency Patients with TPIT Gene Mutations | Zendy

Catherine Couture | Zendy; Alexandru Saveanu | Zendy; Anne Barlier | Zendy; JeanClaude Carel | Zendy; Martin Faßnacht | Zendy; C.E. Flück | Zendy; Muriel Houang | Zendy; Michaël Maes | Zendy; Franziska Phan-Hug | Zendy; A Enjalbert | Zendy; Jacques Drouin | Zendy; Thierry Brue | Zendy; Sophie Vallette | Zendy

Open Access

Phenotypic Homogeneity and Genotypic Variability in a Large Series of Congenital Isolated ACTH-Deficiency Patients with TPIT Gene Mutations

Author(s) -

Catherine Couture,

Alexandru Saveanu,

Anne Barlier,

JeanClaude Carel,

Martin Faßnacht,

C.E. Flück,

Muriel Houang,

Michaël Maes,

Franziska Phan-Hug,

A Enjalbert,

Jacques Drouin,

Thierry Brue,

Sophie Vallette

Publication year - 2011

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2011-1659

Subject(s) - missense mutation , biology , mutation , compound heterozygosity , genotype , genetics , phenotype , exon , gene , heterozygote advantage , microbiology and biotechnology

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.

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