Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.R53delFs
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TBX19

NM_005149.3:p.R53delFs

Associated Papers

A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.

Charnay T et al.

Frontiers in Endocrinology, 2022

A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature.

Kardelen Al AD et al.

Hormone Research in Paediatrics, 2019

Neonatal isolated ACTH deficiency (IAD): a potentially life-threatening but treatable cause of neonatal cholestasis.

Alsaleem M et al.

Bmj Case Reports, 2016

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