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Article

Functional study of three cases with novel TBX19 variants.

Endocrine - 1 Apr 2025

Lei NokI, Qiu Xiang, Li Wunying, Liu Yanlin, Hu Ronggui, Li Chuanyin, Lu Wenli

Abstract excerpt

PURPOSE: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is an autosomal recessive disorder. This study identifies novel TBX19 variants for CIAD patients, explores its possible effect mechanism at the structural, functional and protein levels, and guides clinicians better understand the condition. METHODS: The clinical characteristics of three CIAD children were summarized. Multiple sequence...

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Identifiers

PMID: 39776042
DOI: 10.1007/s12020-024-04153-z
PMCID: PMC11933146

Genes

TBX19
POMC
PITX1

Variants

Provenance

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