Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant

Author:

Labello Julia HaddadORCID,Benedetti Anna Flávia FigueredoORCID,Azevedo Bruna ViscardiORCID,Jorge Alexander Augusto de LimaORCID,Cescato Valter Angelo SperlingORCID,Rosemberg SergioORCID,Frasseto Fernando PereiraORCID,Arnhold Ivo Jorge PradoORCID,Carvalho Luciani Renata Silveira deORCID

Publisher

Archives of Endocrinology and Metabolism

Subject

Endocrinology, Diabetes and Metabolism

Reference29 articles.

1. Molecular basis for familial isolated growth hormone deficiency;Phillips;Proc Natl Acad Sci U S A,1981

2. Genetics of isolated growth hormone deficiency;Mullis;J Clin Res Pediatr Endocrinol,2010

3. Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD;Sobrier;Hum Mol Genet,2016

4. Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency;Argente;EMBO Mol Med,2014

5. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome;Schwartzentruber;Hum Mutat,2014

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