Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) — case reports with literature review

INTRODUCTION: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-independent Cushing’s syndrome (CS). Half of patients with PPNAD are sporadic cases and the other half familial. MATERIAL AND METHODS: We present two patients with PPNAD confirmed by genetic analysis. RESUL...

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Publicado no:Endokrynol Pol
Main Authors: Pasternak-Pietrzak, Katarzyna, Stratakis, Constantine A., Moszczyńska, Elżbieta, Lecka-Ambroziak, Agnieszka, Staniszewski, Michał, Wątrobińska, Urszula, Lyssikatos, Charalampos, Prokop-Piotrkowska, Monika, Grajkowska, Wiesława, Pronicki, Maciej, Szalecki, Mieczysław
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6347113/
https://ncbi.nlm.nih.gov/pubmed/30259502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5603/EP.a2018.0063
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