A Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Caused by Two Novel Mutations in the TBX19 Gene
Author:
Publisher
Frontiers Media SA
Subject
Endocrinology, Diabetes and Metabolism
Reference14 articles.
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2. Neonatal isolated ACTHdeficiency (IAD): a potentially life-threatening but treatable cause of neonatal cholestasis;Alsaleem;BMJ Case Rep.,2016
3. A novel TBX19 gene mutation in a case of congenital isolated adrenocorticotropic hormone deficiency presenting with recurrent respiratory tract infections;Akcan;Front Endocrinol.,2017
4. The T-box gene family: emerging roles in development, stem cells and cancer;Papaioannou;Development.,2014
5. PC1 and PC2 are proprotein convertases capable of cleaving proopiomelanocortin at distinct pairs of basic residues;Benjannet;Proc Natl Acad Sci USA.,1991
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4. A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin;Frontiers in Endocrinology;2023-02-15
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