Article

Identification of two novel and four known mutation in the AAAS gene in unrelated Turkish Families

2022-08-11

Abstract excerpt

<title>Abstract</title> <p>Aim Triple-A Syndrome(TAS) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia, and alacrimia. This disorder is caused by mutations in the <italic>AAAS</italic> gene. The aim of this study is to discuss the clinical, laboratory and molecular genetic analysis results of who were diagnosed with TAS. Method We evaluated 12 patients from 8 families. Al...

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Literature Corpus work: 6082191d-7d19-5b30-b407-24933b1dceec
DOI: 10.21203/rs.3.rs-1933587/v1

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