Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.R53fs
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TBX19

NM_005149.3:p.R53fs

Associated Papers

Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature.

Abali ZY et al.

Hormones (athens, Greece), 2019

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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