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Author

A. Huebner

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Oct 2026

Clinical and genetic heterogeneity of Triple A syndrome: a multicenter study.

Triple A syndrome (AAAS) is a rare autosomal recessive neuroendocrine disorder caused by pathogenic variants in the AAAS gene and characterized by marked clinical heterogeneity. In this multicenter retrospective study, we analyzed 23 patients from 18 families diagnosed across nine centers in Türkiye to characterize the...

Dilek Çelebi, Aslıhan Kiraz, Zakhiriddin Khojakulov et al. · 0 citations

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